Q07113 · MPRI_MOUSE
- ProteinCation-independent mannose-6-phosphate receptor
- GeneIgf2r
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids2483 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3553230121 | 6 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000083.7:g.12988404A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12988404A>G Locations: - p.Leu6Pro (Ensembl:ENSMUST00000024599) - c.17T>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407402738 | 22 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000083.7:g.12988356A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12988356A>T Locations: - p.Leu22Gln (Ensembl:ENSMUST00000024599) - c.65T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425624 | 62 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12967620T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12967620T>A Locations: - p.Asn62Ile (Ensembl:ENSMUST00000024599) - c.185A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425341 | 80 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12967565C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12967565C>T Locations: - p.Met80Ile (Ensembl:ENSMUST00000024599) - c.240G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432851 | 129 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12959182C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12959182C>G Locations: - p.Cys129Ser (Ensembl:ENSMUST00000024599) - c.386G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389449183 | 132 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12959173G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12959173G>A Locations: - p.Thr132Ile (Ensembl:ENSMUST00000024599) - c.395C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425667 | 140 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000083.7:g.12958254T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12958254T>C Locations: - p.Thr140Ala (Ensembl:ENSMUST00000024599) - c.418A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432387 | 161 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12958191A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12958191A>T Locations: - p.Phe161Ile (Ensembl:ENSMUST00000024599) - c.481T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389438680 | 261 | K>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12950380_12950381insCAACCATCAC Codon: AAG/AGTGATGGTTGAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12950380_12950381insCAACCATCAC Locations: - p.Lys261SerfsTer4 (Ensembl:ENSMUST00000024599) - c.781_782insGTGATGGTTG (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407484570 | 271 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.12950351T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12950351T>A Locations: - p.Asn271Tyr (Ensembl:ENSMUST00000024599) - c.811A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389382805 | 275 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12950339G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12950339G>T Locations: - p.Pro275Thr (Ensembl:ENSMUST00000024599) - c.823C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432856 | 284 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12950311G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12950311G>A Locations: - p.Pro284Leu (Ensembl:ENSMUST00000024599) - c.851C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3406502421 | 351 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.12945222C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12945222C>T Locations: - p.Gly351Arg (Ensembl:ENSMUST00000024599) - c.1051G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432351 | 368 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: NC_000083.7:g.12945171G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12945171G>A Locations: - p.Leu368Phe (Ensembl:ENSMUST00000024599) - c.1102C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431320 | 378 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12945141G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12945141G>C Locations: - p.Gln378Glu (Ensembl:ENSMUST00000024599) - c.1132C>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425666 | 385 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000083.7:g.12945120T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12945120T>A Locations: - p.Thr385Ser (Ensembl:ENSMUST00000024599) - c.1153A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389401662 | 397 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.12945083G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12945083G>A Locations: - p.Thr397Ile (Ensembl:ENSMUST00000024599) - c.1190C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431305 | 427 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12944223A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12944223A>C Locations: - p.Phe427Val (Ensembl:ENSMUST00000024599) - c.1279T>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389347851 | 459 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12941103G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12941103G>C Locations: - p.Tyr459Ter (Ensembl:ENSMUST00000024599) - c.1377C>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389347873 | 468 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.12941078G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12941078G>T Locations: - p.Leu468Ile (Ensembl:ENSMUST00000024599) - c.1402C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs108744529 | 474 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12941060T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12941060T>C Locations: - p.Asn474Asp (Ensembl:ENSMUST00000024599) - c.1420A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs258006004 | 492 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.12938829G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12938829G>C Locations: - p.Gln492Glu (Ensembl:ENSMUST00000024599) - c.1474C>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs227113420 | 507 | Y>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.12938783T>G Codon: TAT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12938783T>G Locations: - p.Tyr507Ser (Ensembl:ENSMUST00000024599) - c.1520A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389413512 | 522 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000083.7:g.12938739C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12938739C>T Locations: - p.Ala522Thr (Ensembl:ENSMUST00000024599) - c.1564G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389435992 | 527 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000083.7:g.12938724C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12938724C>T Locations: - p.Glu527Lys (Ensembl:ENSMUST00000024599) - c.1579G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425339 | 533 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12938705G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12938705G>A Locations: - p.Ala533Val (Ensembl:ENSMUST00000024599) - c.1598C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431264 | 555 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12937622T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12937622T>A Locations: - p.His555Leu (Ensembl:ENSMUST00000024599) - c.1664A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442766 | 565 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000083.7:g.12937593C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12937593C>T Locations: - p.Asp565Asn (Ensembl:ENSMUST00000024599) - c.1693G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3405631437 | 600 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12936247A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12936247A>G Locations: - p.Phe600Leu (Ensembl:ENSMUST00000024599) - c.1798T>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389393254 | 680 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000083.7:g.12934930T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934930T>C Locations: - p.Lys680Glu (Ensembl:ENSMUST00000024599) - c.2038A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432855 | 681 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12934926G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934926G>C Locations: - p.Ser681Cys (Ensembl:ENSMUST00000024599) - c.2042C>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442728 | 709 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12934843T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934843T>C Locations: - p.Asn709Asp (Ensembl:ENSMUST00000024599) - c.2125A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407484561 | 712 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12934833T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934833T>G Locations: - p.Lys712Thr (Ensembl:ENSMUST00000024599) - c.2135A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3406810172 | 717 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12934819C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934819C>A Locations: - p.Ala717Ser (Ensembl:ENSMUST00000024599) - c.2149G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389347839 | 730 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.12934780C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934780C>T Locations: - p.Val730Met (Ensembl:ENSMUST00000024599) - c.2188G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs864275034 | 757 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.12934319G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934319G>A Locations: - p.Pro757Leu (Ensembl:ENSMUST00000024599) - c.2270C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389393283 | 768 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12934287T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12934287T>A Locations: - p.Met768Leu (Ensembl:ENSMUST00000024599) - c.2302A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389449187 | 800 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12933854C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933854C>A Locations: - p.Arg800Met (Ensembl:ENSMUST00000024599) - c.2399G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431324 | 804 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12933843G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933843G>A Locations: - p.Leu804Phe (Ensembl:ENSMUST00000024599) - c.2410C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389449153 | 812 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12933818G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933818G>A Locations: - p.Pro812Leu (Ensembl:ENSMUST00000024599) - c.2435C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407075844 | 820 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.12933795C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933795C>A Locations: - p.Ala820Ser (Ensembl:ENSMUST00000024599) - c.2458G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425671 | 827 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000083.7:g.12933773T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933773T>A Locations: - p.Tyr827Phe (Ensembl:ENSMUST00000024599) - c.2480A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389438604 | 827 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12933774A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933774A>T Locations: - p.Tyr827Asn (Ensembl:ENSMUST00000024599) - c.2479T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431296 | 834 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12933020A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12933020A>T Locations: - p.Leu834Ter (Ensembl:ENSMUST00000024599) - c.2501T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431311 | 851-852 | VV>SD | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12932967_12932968insACTACCTCAACCATCACT Codon: -/AGTGATGGTTGAGGTAGT Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12932967_12932968insACTACCTCAACCATCACT Locations: - p.Val851_Val852insSerAspGlyTer (Ensembl:ENSMUST00000024599) - c.2553_2554insAGTGATGGTTGAGGTAGT (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442757 | 855 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000083.7:g.12932956A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12932956A>C Locations: - p.Ser855Arg (Ensembl:ENSMUST00000024599) - c.2565T>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432391 | 866 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12932924G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12932924G>T Locations: - p.Ser866Tyr (Ensembl:ENSMUST00000024599) - c.2597C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389438588 | 872 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12932906T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12932906T>A Locations: - p.Asp872Val (Ensembl:ENSMUST00000024599) - c.2615A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442802 | 877 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.12932892T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12932892T>C Locations: - p.Thr877Ala (Ensembl:ENSMUST00000024599) - c.2629A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389413522 | 903 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12930973C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12930973C>T Locations: - p.Cys903Tyr (Ensembl:ENSMUST00000024599) - c.2708G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389347906 | 904 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.12930971C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12930971C>T Locations: - p.Val904Met (Ensembl:ENSMUST00000024599) - c.2710G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs49880468 | 912 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12930945C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12930945C>A Locations: - p.Glu912Asp (Ensembl:ENSMUST00000024599) - c.2736G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389382826 | 921 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000083.7:g.12930920T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12930920T>A Locations: - p.Thr921Ser (Ensembl:ENSMUST00000024599) - c.2761A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389413492 | 930 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000083.7:g.12929615C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12929615C>T Locations: - p.Arg930Lys (Ensembl:ENSMUST00000024599) - c.2789G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs214748052 | 976 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.12928414C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12928414C>G Locations: - p.Lys976Asn (Ensembl:ENSMUST00000024599) - c.2928G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442799 | 1086 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12923913C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12923913C>T Locations: - p.Glu1086Lys (Ensembl:ENSMUST00000024599) - c.3256G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389382838 | 1133 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12923683C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12923683C>T Locations: - p.Gly1133Glu (Ensembl:ENSMUST00000024599) - c.3398G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432383 | 1170 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12923572C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12923572C>T Locations: - p.Cys1170Tyr (Ensembl:ENSMUST00000024599) - c.3509G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432411 | 1173 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12923564G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12923564G>A Locations: - p.Gln1173Ter (Ensembl:ENSMUST00000024599) - c.3517C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389393315 | 1177 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12923551G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12923551G>A Locations: - p.Thr1177Ile (Ensembl:ENSMUST00000024599) - c.3530C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389382876 | 1192 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12923234A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12923234A>T Locations: - p.Phe1192Ile (Ensembl:ENSMUST00000024599) - c.3574T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425373 | 1227 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12922433T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12922433T>G Locations: - p.His1227Pro (Ensembl:ENSMUST00000024599) - c.3680A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389393296 | 1281 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.12922271G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12922271G>A Locations: - p.Pro1281Leu (Ensembl:ENSMUST00000024599) - c.3842C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389401689 | 1286 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12922255T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12922255T>A Locations: - p.Lys1286Asn (Ensembl:ENSMUST00000024599) - c.3858A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389401694 | 1332 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.12921085T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12921085T>A Locations: - p.Lys1332Met (Ensembl:ENSMUST00000024599) - c.3995A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs221423319 | 1367 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12920238G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12920238G>C Locations: - p.Ala1367Gly (Ensembl:ENSMUST00000024599) - c.4100C>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3406810189 | 1382 | D>G | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12920199_12920200insCAAGGTACAGTGACAACTGGGAGGCTGTGACCAGGACAGGGGCCACTGT Codon: GAC/GGCCCCTGTCCTGGTCACAGCCTCCCAGTTGTCACTGTACCTTGACAGTGAC Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12920199_12920200insCAAGGTACAGTGACAACTGGGAGGCTGTGACCAGGACAGGGGCCACTGT Locations: - p.Asp1382GlyfsTer15 (Ensembl:ENSMUST00000024599) - c.4144_4145insGCCCCTGTCCTGGTCACAGCCTCCCAGTTGTCACTGTACCTTGACAGTG (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432362 | 1415 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000083.7:g.12919408G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12919408G>T Locations: - p.Pro1415Thr (Ensembl:ENSMUST00000024599) - c.4243C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs228110931 | 1419 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12919396C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12919396C>T Locations: - p.Val1419Ile (Ensembl:ENSMUST00000024599) - c.4255G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389449176 | 1495 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12918132G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12918132G>A Locations: - p.Thr1495Ile (Ensembl:ENSMUST00000024599) - c.4484C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389424472 | 1519 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12917526G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12917526G>T Locations: - p.Leu1519Met (Ensembl:ENSMUST00000024599) - c.4555C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389436023 | 1552 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12917426C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12917426C>T Locations: - p.Cys1552Tyr (Ensembl:ENSMUST00000024599) - c.4655G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442822 | 1573 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.12917182T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12917182T>C Locations: - p.Arg1573Gly (Ensembl:ENSMUST00000024599) - c.4717A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs864299560 | 1589 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12917134A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12917134A>T Locations: - p.Ser1589Thr (Ensembl:ENSMUST00000024599) - c.4765T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389347881 | 1605 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12917085A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12917085A>G Locations: - p.Phe1605Ser (Ensembl:ENSMUST00000024599) - c.4814T>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389424510 | 1642 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12916974G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12916974G>T Locations: - p.Ala1642Glu (Ensembl:ENSMUST00000024599) - c.4925C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432878 | 1663 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12916369G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12916369G>A Locations: - p.Thr1663Ile (Ensembl:ENSMUST00000024599) - c.4988C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432369 | 1721 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12914307T>G Codon: ACA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12914307T>G Locations: - p.Thr1721Pro (Ensembl:ENSMUST00000024599) - c.5161A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs33606153 | 1779 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.12913012C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12913012C>A Locations: - p.Val1779Leu (Ensembl:ENSMUST00000024599) - c.5335G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389436069 | 1793 | K>SD | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12912969_12912970insCCACACTACCTCAACCATCAC Codon: AAG/AGTGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12912969_12912970insCCACACTACCTCAACCATCAC Locations: - p.Lys1793delinsSerAspGlyTer (Ensembl:ENSMUST00000024599) - c.5377_5378insGTGATGGTTGAGGTAGTGTGG (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389436035 | 1794 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000083.7:g.12912967T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12912967T>C Locations: - p.Thr1794Ala (Ensembl:ENSMUST00000024599) - c.5380A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs49586086 | 1839 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000083.7:g.12912110C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12912110C>T Locations: - p.Gly1839Asp (Ensembl:ENSMUST00000024599) - c.5516G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389436051 | 1886 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12911968G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12911968G>T Locations: - p.Cys1886Ter (Ensembl:ENSMUST00000024599) - c.5658C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432871 | 1958 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12910945T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910945T>A Locations: - p.Arg1958Ter (Ensembl:ENSMUST00000024599) - c.5872A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407570663 | 1984 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12910865C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910865C>G Locations: - p.Lys1984Asn (Ensembl:ENSMUST00000024599) - c.5952G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389436055 | 1986 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12910861C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910861C>T Locations: - p.Glu1986Lys (Ensembl:ENSMUST00000024599) - c.5956G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389424467 | 2005 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12910803G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910803G>A Locations: - p.Thr2005Met (Ensembl:ENSMUST00000024599) - c.6014C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432852 | 2014 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12910776C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910776C>T Locations: - p.Gly2014Glu (Ensembl:ENSMUST00000024599) - c.6041G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432825 | 2019 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12910172A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910172A>T Locations: - p.Ile2019Asn (Ensembl:ENSMUST00000024599) - c.6056T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432392 | 2027 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000083.7:g.12910149T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12910149T>G Locations: - p.Lys2027Gln (Ensembl:ENSMUST00000024599) - c.6079A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3413002785 | 2075 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12909095A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12909095A>G Locations: - p.Cys2075Arg (Ensembl:ENSMUST00000024599) - c.6223T>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407457909 | 2078 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12909085T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12909085T>A Locations: - p.Asn2078Ile (Ensembl:ENSMUST00000024599) - c.6233A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431323 | 2091 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.12909046T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12909046T>G Locations: - p.Lys2091Thr (Ensembl:ENSMUST00000024599) - c.6272A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3552912719 | 2103 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.12908016T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12908016T>C Locations: - p.Ser2103Gly (Ensembl:ENSMUST00000024599) - c.6307A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442740 | 2127 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12907943A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12907943A>T Locations: - p.Met2127Lys (Ensembl:ENSMUST00000024599) - c.6380T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432360 | 2128 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.12907941C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12907941C>G Locations: - p.Val2128Leu (Ensembl:ENSMUST00000024599) - c.6382G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389393257 | 2129 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.12907938T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12907938T>C Locations: - p.Asn2129Asp (Ensembl:ENSMUST00000024599) - c.6385A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425349 | 2153 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12907379G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12907379G>A Locations: - p.Ala2153Val (Ensembl:ENSMUST00000024599) - c.6458C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389382814 | 2201 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12907235C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12907235C>T Locations: - p.Gly2201Asp (Ensembl:ENSMUST00000024599) - c.6602G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389436009 | 2226 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12905653C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12905653C>T Locations: - p.Gly2226Glu (Ensembl:ENSMUST00000024599) - c.6677G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs13475273 | 2232 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.12905635G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12905635G>A Locations: - p.Ser2232Phe (Ensembl:ENSMUST00000024599) - c.6695C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389347904 | 2249 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.12905585T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12905585T>C Locations: - p.Ile2249Val (Ensembl:ENSMUST00000024599) - c.6745A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389393301 | 2251 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.12905577C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12905577C>G Locations: - p.Glu2251Asp (Ensembl:ENSMUST00000024599) - c.6753G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389438622 | 2275 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000083.7:g.12904619A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904619A>T Locations: - p.Val2275Glu (Ensembl:ENSMUST00000024599) - c.6824T>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389424449 | 2275 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000083.7:g.12904620C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904620C>G Locations: - p.Val2275Leu (Ensembl:ENSMUST00000024599) - c.6823G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442733 | 2285 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000083.7:g.12904588C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904588C>G Locations: - p.Glu2285Asp (Ensembl:ENSMUST00000024599) - c.6855G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431266 | 2291 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000083.7:g.12904572C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904572C>T Locations: - p.Glu2291Lys (Ensembl:ENSMUST00000024599) - c.6871G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389382854 | 2294 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12904562T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904562T>A Locations: - p.Gln2294Leu (Ensembl:ENSMUST00000024599) - c.6881A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389425641 | 2302 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12904539G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904539G>A Locations: - p.Leu2302Phe (Ensembl:ENSMUST00000024599) - c.6904C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432807 | 2305 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12904530C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904530C>T Locations: - p.Val2305Met (Ensembl:ENSMUST00000024599) - c.6913G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389401691 | 2312 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12904509G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904509G>T Locations: - p.Leu2312Met (Ensembl:ENSMUST00000024599) - c.6934C>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407570654 | 2332 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12904065C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904065C>A Locations: - p.Cys2332Phe (Ensembl:ENSMUST00000024599) - c.6995G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407356813 | 2333 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12904062C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904062C>A Locations: - p.Cys2333Phe (Ensembl:ENSMUST00000024599) - c.6998G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407748001 | 2334 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12904060T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904060T>A Locations: - p.Arg2334Ter (Ensembl:ENSMUST00000024599) - c.7000A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407570665 | 2334 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12904058T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904058T>G Locations: - p.Arg2334Ser (Ensembl:ENSMUST00000024599) - c.7002A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3407457939 | 2335 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12904055T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12904055T>G Locations: - p.Arg2335Ser (Ensembl:ENSMUST00000024599) - c.7005A>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389413500 | 2348 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.12903007T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12903007T>C Locations: - p.Lys2348Glu (Ensembl:ENSMUST00000024599) - c.7042A>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389424425 | 2348 | K>NG* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12903005_12903006insACACTACCTCAACCA Codon: AAG/AATGGTTGAGGTAGTGTG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12903005_12903006insACACTACCTCAACCA Locations: - p.Lys2348delinsAsnGlyTer (Ensembl:ENSMUST00000024599) - c.7043_7044insTGGTTGAGGTAGTGT (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs224549791 | 2366 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12902952A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902952A>C Locations: - p.Val2366Gly (Ensembl:ENSMUST00000024599) - c.7097T>G (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389413581 | 2383 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.12902901G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902901G>A Locations: - p.Thr2383Ile (Ensembl:ENSMUST00000024599) - c.7148C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389431316 | 2410 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.12902821C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902821C>T Locations: - p.Glu2410Lys (Ensembl:ENSMUST00000024599) - c.7228G>A (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389432896 | 2418 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.12902797C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902797C>A Locations: - p.Gly2418Ter (Ensembl:ENSMUST00000024599) - c.7252G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389401725 | 2430 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000083.7:g.12902761G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902761G>A Locations: - p.Pro2430Ser (Ensembl:ENSMUST00000024599) - c.7288C>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs257673939 | 2434 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000083.7:g.12902748A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902748A>G Locations: - p.Val2434Ala (Ensembl:ENSMUST00000024599) - c.7301T>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs223434790 | 2434 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000083.7:g.12902749C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902749C>A Locations: - p.Val2434Phe (Ensembl:ENSMUST00000024599) - c.7300G>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389442753 | 2438 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.12902737T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902737T>A Locations: - p.Arg2438Trp (Ensembl:ENSMUST00000024599) - c.7312A>T (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: | |||||||
rs3389449114 | 2470 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000083.7:g.12902641C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.12902641C>G Locations: - p.Val2470Leu (Ensembl:ENSMUST00000024599) - c.7408G>C (Ensembl:ENSMUST00000024599) Source type: large scale study Cross-references: |