A2A5R6 · A2A5R6_MOUSE
- ProteinZinc finger, NFX1-type containing 1
- GeneZnfx1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1045 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs256952115 | 9 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000068.8:g.166885307G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166885307G>T Locations: - p.Ala9Glu (Ensembl:ENSMUST00000067584) - c.26C>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610014 | 35 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.166884556G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884556G>A Locations: - p.Arg35Cys (Ensembl:ENSMUST00000067584) - c.103C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs265514168 | 46 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000068.8:g.166884522T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884522T>C Locations: - p.Asn46Ser (Ensembl:ENSMUST00000067584) - c.137A>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610341 | 68 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.166884114G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884114G>A Locations: - p.Gln68Ter (Ensembl:ENSMUST00000067584) - c.202C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388605685 | 78 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166884084T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884084T>A Locations: - p.Ile78Phe (Ensembl:ENSMUST00000067584) - c.232A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388615616 | 92 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.166884042T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884042T>A Locations: - p.Met92Leu (Ensembl:ENSMUST00000067584) - c.274A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388611736 | 94 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000068.8:g.166884034C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884034C>A Locations: - p.Glu94Asp (Ensembl:ENSMUST00000067584) - c.282G>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388605700 | 99 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166884019T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166884019T>G Locations: - p.Glu99Asp (Ensembl:ENSMUST00000067584) - c.297A>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388611754 | 109 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000068.8:g.166883991C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166883991C>T Locations: - p.Val109Ile (Ensembl:ENSMUST00000067584) - c.325G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610808 | 116 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166883970C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166883970C>G Locations: - p.Gly116Arg (Ensembl:ENSMUST00000067584) - c.346G>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610340 | 117 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166883757C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166883757C>G Locations: - p.Ala117Pro (Ensembl:ENSMUST00000067584) - c.349G>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3392217141 | 130 | R>L | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.166883717_166883718insTTCAGCAAGTGGAGCCTCGGATCGTCATTGTA, NC_000068.8:g.166883717_166883718insTTCAGCAAGTGGAGCCTCGGATCGTCATTGTAGAA Codon: CGG/CTACAATGACGATCCGAGGCTCCACTTGCTGAAGG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.166883717_166883718insTTCAGCAAGTGGAGCCTCGGATCGTCATTGTA, NC_000068.8:g.166883717_166883718insTTCAGCAAGTGGAGCCTCGGATCGTCATTGTAGAA Locations: - p.Arg130LeufsTer3 (Ensembl:ENSMUST00000067584) - c.388_389insTACAATGACGATCCGAGGCTCCACTTGCTGAA (Ensembl:ENSMUST00000067584) - p.Arg130LeufsTer4 (Ensembl:ENSMUST00000067584) - c.388_389insTTCTACAATGACGATCCGAGGCTCCACTTGCTGAA (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616475 | 143 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000068.8:g.166883679C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166883679C>A Locations: - p.Ala143Ser (Ensembl:ENSMUST00000067584) - c.427G>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616063 | 161 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166883624T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166883624T>A Locations: - p.Asp161Val (Ensembl:ENSMUST00000067584) - c.482A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388606793 | 172 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.166882166A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.166882166A>C Locations: - p.Tyr172Ter (Ensembl:ENSMUST00000067584) - c.516T>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388612681 | 174 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166882162G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166882162G>T Locations: - p.Leu174Met (Ensembl:ENSMUST00000067584) - c.520C>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388617352 | 180 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166882144G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166882144G>A Locations: - p.Leu180Phe (Ensembl:ENSMUST00000067584) - c.538C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616066 | 195 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166882099A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166882099A>T Locations: - p.Phe195Ile (Ensembl:ENSMUST00000067584) - c.583T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610386 | 195 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.166882097A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166882097A>C Locations: - p.Phe195Leu (Ensembl:ENSMUST00000067584) - c.585T>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388617337 | 239 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166881067A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166881067A>G Locations: - p.Leu239Pro (Ensembl:ENSMUST00000067584) - c.716T>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610380 | 244 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166881053G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166881053G>A Locations: - p.His244Tyr (Ensembl:ENSMUST00000067584) - c.730C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610363 | 245 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.166881049T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166881049T>A Locations: - p.Asn245Ile (Ensembl:ENSMUST00000067584) - c.734A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs248293995 | 273 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: NC_000068.8:g.166880966G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880966G>A Locations: - p.Leu273Phe (Ensembl:ENSMUST00000067584) - c.817C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610796 | 324 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166880812A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880812A>T Locations: - p.Ile324Asn (Ensembl:ENSMUST00000067584) - c.971T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs228983115 | 337 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000068.8:g.166880773A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880773A>G Locations: - p.Val337Ala (Ensembl:ENSMUST00000067584) - c.1010T>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388615554 | 362 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166880698T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880698T>C Locations: - p.Asn362Ser (Ensembl:ENSMUST00000067584) - c.1085A>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs245163075 | 455 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000068.8:g.166880420G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880420G>T Locations: - p.Leu455Ile (Ensembl:ENSMUST00000067584) - c.1363C>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388605673 | 456 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166880416C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880416C>T Locations: - p.Cys456Tyr (Ensembl:ENSMUST00000067584) - c.1367G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388604750 | 459 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.166880407C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880407C>T Locations: - p.Gly459Glu (Ensembl:ENSMUST00000067584) - c.1376G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610809 | 465 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.166880390C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880390C>G Locations: - p.Val465Leu (Ensembl:ENSMUST00000067584) - c.1393G>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610382 | 467 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.166880383A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880383A>T Locations: - p.Phe467Tyr (Ensembl:ENSMUST00000067584) - c.1400T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs221432946 | 562 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000068.8:g.166880098T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880098T>C Locations: - p.Lys562Arg (Ensembl:ENSMUST00000067584) - c.1685A>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610769 | 583 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166880036C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166880036C>T Locations: - p.Gly583Arg (Ensembl:ENSMUST00000067584) - c.1747G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388606785 | 601 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166879982G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879982G>A Locations: - p.His601Tyr (Ensembl:ENSMUST00000067584) - c.1801C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388609995 | 619 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.89) Somatic: No Accession: NC_000068.8:g.166879928G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879928G>C Locations: - p.Gln619Glu (Ensembl:ENSMUST00000067584) - c.1855C>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3392435871 | 628 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000068.8:g.166879900T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879900T>C Locations: - p.Lys628Arg (Ensembl:ENSMUST00000067584) - c.1883A>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388614400 | 638 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166879870C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879870C>T Locations: - p.Cys638Tyr (Ensembl:ENSMUST00000067584) - c.1913G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388615597 | 640 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166879863C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879863C>A Locations: - p.Glu640Asp (Ensembl:ENSMUST00000067584) - c.1920G>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs241453774 | 649 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000068.8:g.166879838A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879838A>G Locations: - p.Tyr649His (Ensembl:ENSMUST00000067584) - c.1945T>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs864278573 | 657 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166879812C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879812C>G Locations: - p.Glu657Asp (Ensembl:ENSMUST00000067584) - c.1971G>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610787 | 660 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.166879803G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879803G>T Locations: - p.Asn660Lys (Ensembl:ENSMUST00000067584) - c.1980C>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3540891330 | 661 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166879802G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879802G>A Locations: - p.Arg661Trp (Ensembl:ENSMUST00000067584) - c.1981C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3412852173 | 667 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.166879783G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879783G>A Locations: - p.Pro667Leu (Ensembl:ENSMUST00000067584) - c.2000C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388606781 | 760 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166879505A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879505A>T Locations: - p.Tyr760Asn (Ensembl:ENSMUST00000067584) - c.2278T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388614477 | 770 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000068.8:g.166879473C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879473C>A Locations: - p.Glu770Asp (Ensembl:ENSMUST00000067584) - c.2310G>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388611681 | 773 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.166879466T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879466T>A Locations: - p.Ile773Phe (Ensembl:ENSMUST00000067584) - c.2317A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388612744 | 773 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000068.8:g.166879465A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879465A>T Locations: - p.Ile773Asn (Ensembl:ENSMUST00000067584) - c.2318T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388608935 | 776 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000068.8:g.166879456T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879456T>A Locations: - p.Glu776Val (Ensembl:ENSMUST00000067584) - c.2327A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3412117782 | 777 | K>SD | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.166879453_166879454insCCACACTACCTCAACCATCAC Codon: AAG/AGTGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879453_166879454insCCACACTACCTCAACCATCAC Locations: - p.Lys777delinsSerAspGlyTer (Ensembl:ENSMUST00000067584) - c.2329_2330insGTGATGGTTGAGGTAGTGTGG (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388604788 | 779 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.166879448G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879448G>A Locations: - p.Gln779Ter (Ensembl:ENSMUST00000067584) - c.2335C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388613542 | 791 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000068.8:g.166879411T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879411T>A Locations: - p.Gln791Leu (Ensembl:ENSMUST00000067584) - c.2372A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388606801 | 806 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000068.8:g.166879367G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879367G>A Locations: - p.Arg806Cys (Ensembl:ENSMUST00000067584) - c.2416C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs262499028 | 818 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000068.8:g.166879331C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879331C>T Locations: - p.Ala818Thr (Ensembl:ENSMUST00000067584) - c.2452G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388611737 | 820 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000068.8:g.166879324T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879324T>G Locations: - p.Lys820Thr (Ensembl:ENSMUST00000067584) - c.2459A>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616084 | 832 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.166879288T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879288T>G Locations: - p.Asn832Thr (Ensembl:ENSMUST00000067584) - c.2495A>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388614465 | 840 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000068.8:g.166879265A>T Codon: TTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879265A>T Locations: - p.Leu840Met (Ensembl:ENSMUST00000067584) - c.2518T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388617375 | 883 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000068.8:g.166879134G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879134G>T Locations: - p.Asp883Glu (Ensembl:ENSMUST00000067584) - c.2649C>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388605633 | 890 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166879115T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166879115T>A Locations: - p.Arg890Trp (Ensembl:ENSMUST00000067584) - c.2668A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616427 | 946 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000068.8:g.166878947T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878947T>G Locations: - p.Thr946Pro (Ensembl:ENSMUST00000067584) - c.2836A>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388608924 | 972 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.166878869G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878869G>C Locations: - p.His972Asp (Ensembl:ENSMUST00000067584) - c.2914C>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616511 | 973 | W>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878866A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878866A>C Locations: - p.Trp973Gly (Ensembl:ENSMUST00000067584) - c.2917T>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388606812 | 975 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878859T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878859T>A Locations: - p.Lys975Met (Ensembl:ENSMUST00000067584) - c.2924A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3392529876 | 979 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878847C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878847C>G Locations: - p.Gly979Ala (Ensembl:ENSMUST00000067584) - c.2936G>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388609958 | 992 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878807T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878807T>G Locations: - p.Gln992His (Ensembl:ENSMUST00000067584) - c.2976A>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs27328998 | 995 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.166878799G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878799G>A Locations: - p.Thr995Ile (Ensembl:ENSMUST00000067584) - c.2984C>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3540885082 | 1004 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166878773C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878773C>T Locations: - p.Gly1004Ser (Ensembl:ENSMUST00000067584) - c.3010G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388605696 | 1005 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878770C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878770C>G Locations: - p.Gly1005Arg (Ensembl:ENSMUST00000067584) - c.3013G>C (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388611760 | 1010 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878755G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878755G>T Locations: - p.Leu1010Ile (Ensembl:ENSMUST00000067584) - c.3028C>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388616424 | 1014 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878743T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878743T>A Locations: - p.Asn1014Tyr (Ensembl:ENSMUST00000067584) - c.3040A>T (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388615615 | 1022 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.166878718C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878718C>T Locations: - p.Gly1022Glu (Ensembl:ENSMUST00000067584) - c.3065G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388610770 | 1023 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.166878716C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878716C>T Locations: - p.Ala1023Thr (Ensembl:ENSMUST00000067584) - c.3067G>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388614404 | 1043 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.166878656T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878656T>C Locations: - p.Arg1043Gly (Ensembl:ENSMUST00000067584) - c.3127A>G (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: | |||||||
rs3388609979 | 1044 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.166878652A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.166878652A>T Locations: - p.Met1044Lys (Ensembl:ENSMUST00000067584) - c.3131T>A (Ensembl:ENSMUST00000067584) Source type: large scale study Cross-references: |