A2AQ25 · SKT_MOUSE
- ProteinSickle tail protein
- GeneSkt
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1946 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388531585 | 31 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000068.8:g.20534792T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20534792T>A Locations: - p.His31Gln (Ensembl:ENSMUST00000066509) - c.93T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528507 | 42 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20534824G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20534824G>T Locations: - p.Arg42Met (Ensembl:ENSMUST00000066509) - c.125G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391319254 | 87 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20534958G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20534958G>T Locations: - p.Asp87Tyr (Ensembl:ENSMUST00000066509) - c.259G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391310231 | 88 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20534962G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20534962G>T Locations: - p.Arg88Met (Ensembl:ENSMUST00000066509) - c.263G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533405 | 100 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20534997A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20534997A>T Locations: - p.Lys100Ter (Ensembl:ENSMUST00000066509) - c.298A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533385 | 100 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20534999G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20534999G>T Locations: - p.Lys100Asn (Ensembl:ENSMUST00000066509) - c.300G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526504 | 101 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20535002C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20535002C>G Locations: - p.Tyr101Ter (Ensembl:ENSMUST00000066509) - c.303C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530425 | 106 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20535016C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20535016C>A Locations: - p.Thr106Lys (Ensembl:ENSMUST00000066509) - c.317C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs387532103 | 119 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20666710C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20666710C>G Locations: - p.Thr119Arg (Ensembl:ENSMUST00000066509) - c.356C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs244052002 | 176 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20666880G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20666880G>A Locations: - p.Ala176Thr (Ensembl:ENSMUST00000066509) - c.526G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528434 | 216 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20714309G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20714309G>A Locations: - p.Ser216Asn (Ensembl:ENSMUST00000066509) - c.647G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391248927 | 219 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20714318C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20714318C>T Locations: - p.Pro219Leu (Ensembl:ENSMUST00000066509) - c.656C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528589 | 219 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20714317C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20714317C>T Locations: - p.Pro219Ser (Ensembl:ENSMUST00000066509) - c.655C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533341 | 224 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20714334G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20714334G>C Locations: - p.Met224Ile (Ensembl:ENSMUST00000066509) - c.672G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530422 | 233 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20714360C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20714360C>T Locations: - p.Ala233Val (Ensembl:ENSMUST00000066509) - c.698C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530363 | 275 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20718238A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20718238A>C Locations: - p.Lys275Asn (Ensembl:ENSMUST00000066509) - c.825A>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs213070464 | 297 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000068.8:g.20748313C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748313C>T Locations: - p.Ala297Val (Ensembl:ENSMUST00000066509) - c.890C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388532160 | 318 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748376C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748376C>T Locations: - p.Pro318Leu (Ensembl:ENSMUST00000066509) - c.953C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530358 | 336 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748430G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748430G>A Locations: - p.Arg336His (Ensembl:ENSMUST00000066509) - c.1007G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391324662 | 346 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748460T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748460T>C Locations: - p.Ile346Thr (Ensembl:ENSMUST00000066509) - c.1037T>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530381 | 377 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748553A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748553A>T Locations: - p.Glu377Val (Ensembl:ENSMUST00000066509) - c.1130A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531710 | 378 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748555G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748555G>A Locations: - p.Asp378Asn (Ensembl:ENSMUST00000066509) - c.1132G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533378 | 413 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20748660C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748660C>T Locations: - p.His413Tyr (Ensembl:ENSMUST00000066509) - c.1237C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531732 | 453 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748781A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748781A>T Locations: - p.Gln453Leu (Ensembl:ENSMUST00000066509) - c.1358A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527426 | 456 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748790G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748790G>A Locations: - p.Arg456Lys (Ensembl:ENSMUST00000066509) - c.1367G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs1134215282 | 470 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748832C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748832C>T Locations: - p.Thr470Met (Ensembl:ENSMUST00000066509) - c.1409C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528964 | 472 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20748838C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748838C>A Locations: - p.Pro472Gln (Ensembl:ENSMUST00000066509) - c.1415C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391321307 | 512 | K>M* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20748957_20748958insTGT Codon: AAA/ATGTAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20748957_20748958insTGT Locations: - p.Lys512delinsMetTer (Ensembl:ENSMUST00000066509) - c.1534_1535insTGT (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27133600 | 551 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20749074A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20749074A>G Locations: - p.Thr551Ala (Ensembl:ENSMUST00000066509) - c.1651A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530432 | 563 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20764365A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20764365A>G Locations: - p.Met563Val (Ensembl:ENSMUST00000066509) - c.1687A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391329029 | 570 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20764388T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20764388T>G Locations: - p.Ile570Met (Ensembl:ENSMUST00000066509) - c.1710T>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531752 | 576 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20764405T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20764405T>A Locations: - p.Leu576His (Ensembl:ENSMUST00000066509) - c.1727T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527435 | 580 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20764417C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20764417C>T Locations: - p.Ala580Val (Ensembl:ENSMUST00000066509) - c.1739C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528534 | 583 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20764425A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20764425A>T Locations: - p.Lys583Ter (Ensembl:ENSMUST00000066509) - c.1747A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526547 | 598 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20765035G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20765035G>T Locations: - p.Met598Ile (Ensembl:ENSMUST00000066509) - c.1794G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527453 | 605 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20765055G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20765055G>T Locations: - p.Arg605Met (Ensembl:ENSMUST00000066509) - c.1814G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530894 | 621 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20771282G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20771282G>T Locations: - p.Val621Phe (Ensembl:ENSMUST00000066509) - c.1861G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528967 | 638 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20771333G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20771333G>T Locations: - p.Gly638Ter (Ensembl:ENSMUST00000066509) - c.1912G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531535 | 664 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20771412G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20771412G>T Locations: - p.Arg664Met (Ensembl:ENSMUST00000066509) - c.1991G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534223 | 677 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20782864A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782864A>T Locations: - p.Met677Leu (Ensembl:ENSMUST00000066509) - c.2029A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531774 | 679 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20782870A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782870A>T Locations: - p.Lys679Ter (Ensembl:ENSMUST00000066509) - c.2035A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs258179839 | 687 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000068.8:g.20782895A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782895A>G Locations: - p.Asn687Ser (Ensembl:ENSMUST00000066509) - c.2060A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534241 | 709 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20782960C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782960C>T Locations: - p.Gln709Ter (Ensembl:ENSMUST00000066509) - c.2125C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528418 | 709 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20782961A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782961A>G Locations: - p.Gln709Arg (Ensembl:ENSMUST00000066509) - c.2126A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528940 | 713 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20782972A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782972A>T Locations: - p.Lys713Ter (Ensembl:ENSMUST00000066509) - c.2137A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118627 | 720 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20782994G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20782994G>A Locations: - p.Arg720Gln (Ensembl:ENSMUST00000066509) - c.2159G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530872 | 747 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20785815C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20785815C>T Locations: - p.Thr747Ile (Ensembl:ENSMUST00000066509) - c.2240C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531561 | 750 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20785823G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20785823G>T Locations: - p.Asp750Tyr (Ensembl:ENSMUST00000066509) - c.2248G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526455 | 752 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20785829G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20785829G>A Locations: - p.Glu752Lys (Ensembl:ENSMUST00000066509) - c.2254G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391347319 | 756 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20785841T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20785841T>G Locations: - p.Phe756Val (Ensembl:ENSMUST00000066509) - c.2266T>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391080532 | 809 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20786726G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20786726G>C Locations: - p.Ser809Thr (Ensembl:ENSMUST00000066509) - c.2426G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118601 | 818 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20786753G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20786753G>A Locations: - p.Arg818Gln (Ensembl:ENSMUST00000066509) - c.2453G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530434 | 823 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000068.8:g.20789867T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20789867T>A Locations: - p.Asp823Glu (Ensembl:ENSMUST00000066509) - c.2469T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531777 | 835 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000068.8:g.20789902C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20789902C>T Locations: - p.Ala835Val (Ensembl:ENSMUST00000066509) - c.2504C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533371 | 866 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.20789995G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20789995G>T Locations: - p.Ser866Ile (Ensembl:ENSMUST00000066509) - c.2597G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388532124 | 883 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.20790046T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790046T>C Locations: - p.Met883Thr (Ensembl:ENSMUST00000066509) - c.2648T>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526432 | 903 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.20790105G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790105G>A Locations: - p.Ala903Thr (Ensembl:ENSMUST00000066509) - c.2707G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528429 | 905 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000068.8:g.20790113G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790113G>C Locations: - p.Met905Ile (Ensembl:ENSMUST00000066509) - c.2715G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528933 | 906 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.20790115A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790115A>G Locations: - p.Asn906Ser (Ensembl:ENSMUST00000066509) - c.2717A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528764 | 925 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000068.8:g.20790171A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790171A>T Locations: - p.Ile925Phe (Ensembl:ENSMUST00000066509) - c.2773A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528918 | 931 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20790190C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790190C>G Locations: - p.Ser931Cys (Ensembl:ENSMUST00000066509) - c.2792C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs212958696 | 937 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20790208G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20790208G>C Locations: - p.Gly937Ala (Ensembl:ENSMUST00000066509) - c.2810G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533425 | 972 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20793240A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793240A>T Locations: - p.Lys972Met (Ensembl:ENSMUST00000066509) - c.2915A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527443 | 972 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20793241G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793241G>T Locations: - p.Lys972Asn (Ensembl:ENSMUST00000066509) - c.2916G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530968 | 975 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20793249A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793249A>G Locations: - p.Lys975Arg (Ensembl:ENSMUST00000066509) - c.2924A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527417 | 979 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20793261A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793261A>G Locations: - p.Glu979Gly (Ensembl:ENSMUST00000066509) - c.2936A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526437 | 990 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20793295G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793295G>T Locations: - p.Lys990Asn (Ensembl:ENSMUST00000066509) - c.2970G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526476 | 1015 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20793369C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793369C>A Locations: - p.Ala1015Asp (Ensembl:ENSMUST00000066509) - c.3044C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528425 | 1017 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20793375G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793375G>A Locations: - p.Ser1017Asn (Ensembl:ENSMUST00000066509) - c.3050G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs264409758 | 1026 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.20793401G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20793401G>A Locations: - p.Gly1026Arg (Ensembl:ENSMUST00000066509) - c.3076G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534271 | 1056 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20802756C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20802756C>T Locations: - p.Pro1056Ser (Ensembl:ENSMUST00000066509) - c.3166C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527445 | 1061 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20802773C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20802773C>G Locations: - p.Tyr1061Ter (Ensembl:ENSMUST00000066509) - c.3183C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526417 | 1067 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20802790T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20802790T>C Locations: - p.Leu1067Pro (Ensembl:ENSMUST00000066509) - c.3200T>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528733 | 1086 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000068.8:g.20803430A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20803430A>T Locations: - p.Ser1086Cys (Ensembl:ENSMUST00000066509) - c.3256A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528898 | 1096 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000068.8:g.20803461C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20803461C>T Locations: - p.Thr1096Ile (Ensembl:ENSMUST00000066509) - c.3287C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531692 | 1098 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20803467C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20803467C>G Locations: - p.Ala1098Gly (Ensembl:ENSMUST00000066509) - c.3293C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534262 | 1099 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000068.8:g.20803470C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20803470C>T Locations: - p.Thr1099Ile (Ensembl:ENSMUST00000066509) - c.3296C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs583755230 | 1122 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.20803538T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20803538T>A Locations: - p.Ser1122Thr (Ensembl:ENSMUST00000066509) - c.3364T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531588 | 1125 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20803548A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20803548A>T Locations: - p.Glu1125Val (Ensembl:ENSMUST00000066509) - c.3374A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534228 | 1159 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20806407T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20806407T>A Locations: - p.Ser1159Thr (Ensembl:ENSMUST00000066509) - c.3475T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528503 | 1161 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000068.8:g.20806414C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20806414C>G Locations: - p.Ala1161Gly (Ensembl:ENSMUST00000066509) - c.3482C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527442 | 1181 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20810397A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810397A>T Locations: - p.Asn1181Ile (Ensembl:ENSMUST00000066509) - c.3542A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388527412 | 1216 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20810614G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810614G>C Locations: - p.Gly1216Ala (Ensembl:ENSMUST00000066509) - c.3647G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118458 | 1225 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20810640G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810640G>A Locations: - p.Val1225Met (Ensembl:ENSMUST00000066509) - c.3673G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118457 | 1228 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.20810651A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810651A>G Locations: - p.Ile1228Met (Ensembl:ENSMUST00000066509) - c.3684A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534287 | 1235 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20810671C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810671C>G Locations: - p.Ser1235Ter (Ensembl:ENSMUST00000066509) - c.3704C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388532023 | 1263 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20810756A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810756A>T Locations: - p.Lys1263Asn (Ensembl:ENSMUST00000066509) - c.3789A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs254530231 | 1268 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.20810769G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810769G>A Locations: - p.Val1268Ile (Ensembl:ENSMUST00000066509) - c.3802G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528493 | 1269 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20810773G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810773G>A Locations: - p.Ser1269Asn (Ensembl:ENSMUST00000066509) - c.3806G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118456 | 1277 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000068.8:g.20810797C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810797C>T Locations: - p.Ser1277Leu (Ensembl:ENSMUST00000066509) - c.3830C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388531711 | 1288 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000068.8:g.20810830T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810830T>A Locations: - p.Val1288Asp (Ensembl:ENSMUST00000066509) - c.3863T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118455 | 1289 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000068.8:g.20810833C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810833C>T Locations: - p.Ser1289Leu (Ensembl:ENSMUST00000066509) - c.3866C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533701 | 1300 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20810865A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810865A>T Locations: - p.Asn1300Tyr (Ensembl:ENSMUST00000066509) - c.3898A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534209 | 1305 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20810880T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810880T>A Locations: - p.Phe1305Ile (Ensembl:ENSMUST00000066509) - c.3913T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs245575619 | 1306 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000068.8:g.20810883G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810883G>A Locations: - p.Gly1306Arg (Ensembl:ENSMUST00000066509) - c.3916G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs216023772 | 1314 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000068.8:g.20810907C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810907C>G Locations: - p.Gln1314Glu (Ensembl:ENSMUST00000066509) - c.3940C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs261053332 | 1320 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000068.8:g.20810927C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810927C>A Locations: - p.Asp1320Glu (Ensembl:ENSMUST00000066509) - c.3960C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs235554173 | 1322 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000068.8:g.20810931A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810931A>T Locations: - p.Ser1322Cys (Ensembl:ENSMUST00000066509) - c.3964A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs261458232 | 1338 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000068.8:g.20810979G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20810979G>A Locations: - p.Val1338Ile (Ensembl:ENSMUST00000066509) - c.4012G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs222410784 | 1347 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.99) Somatic: No Accession: NC_000068.8:g.20811006G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811006G>A Locations: - p.Val1347Met (Ensembl:ENSMUST00000066509) - c.4039G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533323 | 1350 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20811015T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811015T>A Locations: - p.Tyr1350Asn (Ensembl:ENSMUST00000066509) - c.4048T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528760 | 1363 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000068.8:g.20811055C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811055C>A Locations: - p.Ala1363Asp (Ensembl:ENSMUST00000066509) - c.4088C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs1134083136 | 1363 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000068.8:g.20811054G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811054G>A Locations: - p.Ala1363Thr (Ensembl:ENSMUST00000066509) - c.4087G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528422 | 1364 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20811057A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811057A>G Locations: - p.Asn1364Asp (Ensembl:ENSMUST00000066509) - c.4090A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388534268 | 1367 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.20811066A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811066A>T Locations: - p.Met1367Leu (Ensembl:ENSMUST00000066509) - c.4099A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118452 | 1416 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000068.8:g.20811213G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811213G>A Locations: - p.Val1416Ile (Ensembl:ENSMUST00000066509) - c.4246G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs227860611 | 1431 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20811260C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811260C>A Locations: - p.His1431Gln (Ensembl:ENSMUST00000066509) - c.4293C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530402 | 1433 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811265G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811265G>A Locations: - p.Gly1433Glu (Ensembl:ENSMUST00000066509) - c.4298G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533310 | 1442 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811292G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811292G>A Locations: - p.Cys1442Tyr (Ensembl:ENSMUST00000066509) - c.4325G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526407 | 1488 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811430A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811430A>T Locations: - p.Glu1488Val (Ensembl:ENSMUST00000066509) - c.4463A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526409 | 1491 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811439A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811439A>G Locations: - p.Asp1491Gly (Ensembl:ENSMUST00000066509) - c.4472A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs216265451 | 1496 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000068.8:g.20811453T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811453T>A Locations: - p.Ser1496Thr (Ensembl:ENSMUST00000066509) - c.4486T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs260298919 | 1499 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.20811463G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811463G>C Locations: - p.Arg1499Pro (Ensembl:ENSMUST00000066509) - c.4496G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118449 | 1506 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000068.8:g.20811483T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811483T>C Locations: - p.Cys1506Arg (Ensembl:ENSMUST00000066509) - c.4516T>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391080544 | 1507 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20811486G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811486G>T Locations: - p.Glu1507Ter (Ensembl:ENSMUST00000066509) - c.4519G>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391191123 | 1507 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.20811487A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811487A>C Locations: - p.Glu1507Ala (Ensembl:ENSMUST00000066509) - c.4520A>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528607 | 1518 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000068.8:g.20811519C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811519C>A Locations: - p.Gln1518Lys (Ensembl:ENSMUST00000066509) - c.4552C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528768 | 1536 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.20811573C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811573C>G Locations: - p.Pro1536Ala (Ensembl:ENSMUST00000066509) - c.4606C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388526443 | 1539 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.20811583A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811583A>T Locations: - p.Gln1539Leu (Ensembl:ENSMUST00000066509) - c.4616A>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118448 | 1555 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000068.8:g.20811631C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811631C>T Locations: - p.Pro1555Leu (Ensembl:ENSMUST00000066509) - c.4664C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs1134259288 | 1557 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811636T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811636T>A Locations: - p.Ser1557Thr (Ensembl:ENSMUST00000066509) - c.4669T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs257228449 | 1558 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.20811640G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811640G>A Locations: - p.Gly1558Glu (Ensembl:ENSMUST00000066509) - c.4673G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391329012 | 1582 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811711A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811711A>G Locations: - p.Lys1582Glu (Ensembl:ENSMUST00000066509) - c.4744A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528463 | 1586 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811724C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811724C>T Locations: - p.Ala1586Val (Ensembl:ENSMUST00000066509) - c.4757C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3391191090 | 1590 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20811736C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811736C>G Locations: - p.Ala1590Gly (Ensembl:ENSMUST00000066509) - c.4769C>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530834 | 1613 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811806C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811806C>A Locations: - p.Asp1613Glu (Ensembl:ENSMUST00000066509) - c.4839C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530371 | 1644 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.20811899G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811899G>C Locations: - p.Glu1644Asp (Ensembl:ENSMUST00000066509) - c.4932G>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533412 | 1645 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.20811900C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811900C>T Locations: - p.Gln1645Ter (Ensembl:ENSMUST00000066509) - c.4933C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388532167 | 1678 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20811999C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20811999C>T Locations: - p.Leu1678Phe (Ensembl:ENSMUST00000066509) - c.5032C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs27118447 | 1692 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20812042A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20812042A>G Locations: - p.Asp1692Gly (Ensembl:ENSMUST00000066509) - c.5075A>G (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530418 | 1713 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.20812105C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20812105C>A Locations: - p.Ser1713Tyr (Ensembl:ENSMUST00000066509) - c.5138C>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388533392 | 1723 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20812134G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20812134G>A Locations: - p.Val1723Ile (Ensembl:ENSMUST00000066509) - c.5167G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3413151113 | 1733 | I>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20812165T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20812165T>A Locations: - p.Ile1733Lys (Ensembl:ENSMUST00000066509) - c.5198T>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388530898 | 1736 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20812174C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20812174C>T Locations: - p.Ala1736Val (Ensembl:ENSMUST00000066509) - c.5207C>T (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs3388528957 | 1740 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.20812714G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20812714G>A Locations: - p.Gly1740Asp (Ensembl:ENSMUST00000066509) - c.5219G>A (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: | |||||||
rs229373455 | 1898 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000068.8:g.20813872T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.20813872T>C Locations: - p.Ser1898Pro (Ensembl:ENSMUST00000066509) - c.5692T>C (Ensembl:ENSMUST00000066509) Source type: large scale study Cross-references: |