P51827 · AFF3_MOUSE
- ProteinAF4/FMR2 family member 3
- GeneAff3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1254 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389878430 | 45 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.38576021_38576022insGTGTC Codon: TAT/TAGACACT Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.38576021_38576022insGTGTC Locations: - p.Tyr45Ter (Ensembl:ENSMUST00000238906) - c.134_135insGACAC (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388467325 | 65 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.38575963G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.38575963G>A Locations: - p.Gln65Ter (Ensembl:ENSMUST00000238906) - c.193C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465816 | 76 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.38575930A>T Codon: TCG/ACG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38575930A>T Locations: - p.Ser76Thr (Ensembl:ENSMUST00000238906) - c.226T>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388467281 | 80 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38575916T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38575916T>A Locations: - p.Glu80Asp (Ensembl:ENSMUST00000238906) - c.240A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464840 | 96 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38574767T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574767T>A Locations: - p.Asn96Ile (Ensembl:ENSMUST00000238906) - c.287A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465963 | 129 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000067.7:g.38574668G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574668G>A Locations: - p.Pro129Leu (Ensembl:ENSMUST00000238906) - c.386C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464889 | 143 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000067.7:g.38574627C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574627C>A Locations: - p.Ala143Ser (Ensembl:ENSMUST00000238906) - c.427G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465001 | 145 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000067.7:g.38574621G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574621G>A Locations: - p.Pro145Ser (Ensembl:ENSMUST00000238906) - c.433C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs48704853 | 149 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38574609T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574609T>A Locations: - p.Thr149Ser (Ensembl:ENSMUST00000238906) - c.445A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465936 | 153 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000067.7:g.38574597T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574597T>A Locations: - p.Thr153Ser (Ensembl:ENSMUST00000238906) - c.457A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs238326775 | 157 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.38574584G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574584G>A Locations: - p.Thr157Ile (Ensembl:ENSMUST00000238906) - c.470C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs218421222 | 164 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000067.7:g.38574562C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574562C>A Locations: - p.Gln164His (Ensembl:ENSMUST00000238906) - c.492G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs246404357 | 170 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38574546C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574546C>T Locations: - p.Ala170Thr (Ensembl:ENSMUST00000238906) - c.508G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465849 | 176 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000067.7:g.38574528C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574528C>T Locations: - p.Ala176Thr (Ensembl:ENSMUST00000238906) - c.526G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388467246 | 188 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.38574372G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574372G>A Locations: - p.Ala188Val (Ensembl:ENSMUST00000238906) - c.563C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464778 | 207 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000067.7:g.38574315C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574315C>A Locations: - p.Arg207Met (Ensembl:ENSMUST00000238906) - c.620G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs48168583 | 216 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000067.7:g.38574289T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574289T>C Locations: - p.Thr216Ala (Ensembl:ENSMUST00000238906) - c.646A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465844 | 229 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000067.7:g.38574250C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574250C>A Locations: - p.Ala229Ser (Ensembl:ENSMUST00000238906) - c.685G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs49801946 | 233 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.94) Somatic: No Accession: NC_000067.7:g.38574238C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574238C>T Locations: - p.Gly233Ser (Ensembl:ENSMUST00000238906) - c.697G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465779 | 244 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000067.7:g.38574205A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574205A>T Locations: - p.Ser244Thr (Ensembl:ENSMUST00000238906) - c.730T>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464579 | 279 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.38574099G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574099G>C Locations: - p.Ser279Cys (Ensembl:ENSMUST00000238906) - c.836C>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs50097800 | 287 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_000067.7:g.38574076T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574076T>C Locations: - p.Thr287Ala (Ensembl:ENSMUST00000238906) - c.859A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388467250 | 305 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38574021T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38574021T>A Locations: - p.Lys305Met (Ensembl:ENSMUST00000238906) - c.914A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465306 | 344 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38380847T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38380847T>A Locations: - p.Gln344His (Ensembl:ENSMUST00000238906) - c.1032A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464786 | 348 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38380836T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38380836T>G Locations: - p.Lys348Thr (Ensembl:ENSMUST00000238906) - c.1043A>C (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs247927974 | 379 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000067.7:g.38359223C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38359223C>T Locations: - p.Gly379Glu (Ensembl:ENSMUST00000238906) - c.1136G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465471 | 379 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000067.7:g.38359224C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38359224C>G Locations: - p.Gly379Arg (Ensembl:ENSMUST00000238906) - c.1135G>C (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465448 | 388 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000067.7:g.38359196G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38359196G>A Locations: - p.Thr388Ile (Ensembl:ENSMUST00000238906) - c.1163C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388466089 | 444 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000067.7:g.38257466T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38257466T>C Locations: - p.Ser444Gly (Ensembl:ENSMUST00000238906) - c.1330A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465233 | 446 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38257460C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38257460C>T Locations: - p.Gly446Ser (Ensembl:ENSMUST00000238906) - c.1336G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs255612683 | 469 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.38257391A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38257391A>C Locations: - p.Ser469Ala (Ensembl:ENSMUST00000238906) - c.1405T>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs238535007 | 469 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38257390G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38257390G>T Locations: - p.Ser469Tyr (Ensembl:ENSMUST00000238906) - c.1406C>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465970 | 529 | K>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.38249595_38249596insACCTCAACCATCAC Codon: AAA/AGTGATGGTTGAGGTAA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.38249595_38249596insACCTCAACCATCAC Locations: - p.Lys529SerfsTer4 (Ensembl:ENSMUST00000238906) - c.1585_1586insGTGATGGTTGAGGT (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465648 | 531 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.38249589T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38249589T>C Locations: - p.Glu531Gly (Ensembl:ENSMUST00000238906) - c.1592A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464531 | 564 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38249490G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38249490G>T Locations: - p.Ala564Glu (Ensembl:ENSMUST00000238906) - c.1691C>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465911 | 654 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38249220C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38249220C>A Locations: - p.Arg654Ile (Ensembl:ENSMUST00000238906) - c.1961G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3389858940 | 673 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000067.7:g.38249163C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38249163C>T Locations: - p.Cys673Tyr (Ensembl:ENSMUST00000238906) - c.2018G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs226421213 | 736 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38248974T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248974T>C Locations: - p.Asn736Ser (Ensembl:ENSMUST00000238906) - c.2207A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs257447783 | 737 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.97) Somatic: No Accession: NC_000067.7:g.38248971T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248971T>C Locations: - p.Asn737Ser (Ensembl:ENSMUST00000238906) - c.2210A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs584085916 | 738 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: NC_000067.7:g.38248968T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248968T>C Locations: - p.Asn738Ser (Ensembl:ENSMUST00000238906) - c.2213A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs581474484 | 739 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000067.7:g.38248965C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248965C>T Locations: - p.Ser739Asn (Ensembl:ENSMUST00000238906) - c.2216G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs248924424 | 742 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38248956T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248956T>C Locations: - p.Asn742Ser (Ensembl:ENSMUST00000238906) - c.2225A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465184 | 829 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000067.7:g.38248696C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248696C>A Locations: - p.Ala829Ser (Ensembl:ENSMUST00000238906) - c.2485G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464986 | 832 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000067.7:g.38248686G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248686G>A Locations: - p.Ala832Val (Ensembl:ENSMUST00000238906) - c.2495C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465975 | 833 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000067.7:g.38248682T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248682T>A Locations: - p.Leu833Phe (Ensembl:ENSMUST00000238906) - c.2499A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs31572656 | 835 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.38248678C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38248678C>T Locations: - p.Ala835Thr (Ensembl:ENSMUST00000238906) - c.2503G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465333 | 862-863 | VQ>SD | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.38247073_38247074insCCCTCCACACTACCTCAACCATCACTC Codon: GTC/GTGAGTGATGGTTGAGGTAGTGTGGAGGGC Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.38247073_38247074insCCCTCCACACTACCTCAACCATCACTC Locations: - p.Val862_Gln863insSerAspGlyTer (Ensembl:ENSMUST00000238906) - c.2585_2586insGAGTGATGGTTGAGGTAGTGTGGAGGG (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465704 | 868 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000067.7:g.38247056C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38247056C>T Locations: - p.Ser868Asn (Ensembl:ENSMUST00000238906) - c.2603G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465723 | 922 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.38244081C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38244081C>T Locations: - p.Asp922Asn (Ensembl:ENSMUST00000238906) - c.2764G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs32986402 | 931 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000067.7:g.38244054C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38244054C>T Locations: - p.Gly931Ser (Ensembl:ENSMUST00000238906) - c.2791G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs30511899 | 948 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000067.7:g.38244003T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38244003T>G Locations: - p.Ser948Arg (Ensembl:ENSMUST00000238906) - c.2842A>C (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465307 | 953 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.38243987A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38243987A>C Locations: - p.Ile953Ser (Ensembl:ENSMUST00000238906) - c.2858T>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465588 | 967 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000067.7:g.38242994T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38242994T>C Locations: - p.Asn967Ser (Ensembl:ENSMUST00000238906) - c.2900A>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465501 | 970 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.38242986G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38242986G>T Locations: - p.Leu970Ile (Ensembl:ENSMUST00000238906) - c.2908C>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388464768 | 991 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38242922C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38242922C>A Locations: - p.Cys991Phe (Ensembl:ENSMUST00000238906) - c.2972G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465528 | 997 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000067.7:g.38242905T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38242905T>A Locations: - p.Ile997Phe (Ensembl:ENSMUST00000238906) - c.2989A>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465160 | 1055 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38230291G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38230291G>A Locations: - p.Ser1055Phe (Ensembl:ENSMUST00000238906) - c.3164C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465122 | 1069 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.38226085A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.38226085A>T Locations: - p.Tyr1069Ter (Ensembl:ENSMUST00000238906) - c.3207T>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465443 | 1115 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38224431G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38224431G>A Locations: - p.Ser1115Leu (Ensembl:ENSMUST00000238906) - c.3344C>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3389865733 | 1123-1124 | KN>LS | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.38220751_38220752insTGCCACTCACTGTACCAATTTTCATTTCCCTGCAGAATTCATCGAAAGCTGCAG Codon: -/CTTTCGATGAATTCTGCAGGGAAATGAAAATTGGTACAGTGAGTGGCACTGCAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220751_38220752insTGCCACTCACTGTACCAATTTTCATTTCCCTGCAGAATTCATCGAAAGCTGCAG Locations: - p.Lys1123_Asn1124insLeuSerMetAsnSerAlaGlyLysTer (Ensembl:ENSMUST00000238906) - c.3370-1_3370insCTTTCGATGAATTCTGCAGGGAAATGAAAATTGGTACAGTGAGTGGCACTGCAG (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs263265438 | 1128 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000067.7:g.38220733C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220733C>T Locations: - p.Ala1128Thr (Ensembl:ENSMUST00000238906) - c.3382G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465737 | 1129 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000067.7:g.38220730C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220730C>A Locations: - p.Ala1129Ser (Ensembl:ENSMUST00000238906) - c.3385G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3389865700 | 1138 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38220701A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220701A>C Locations: - p.Ser1138Arg (Ensembl:ENSMUST00000238906) - c.3414T>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3539111470 | 1155 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000067.7:g.38220521C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220521C>T Locations: - p.Ala1155Thr (Ensembl:ENSMUST00000238906) - c.3463G>A (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465956 | 1168 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38220481C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220481C>A Locations: - p.Ser1168Ile (Ensembl:ENSMUST00000238906) - c.3503G>T (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388466055 | 1187 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38220425C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38220425C>G Locations: - p.Ala1187Pro (Ensembl:ENSMUST00000238906) - c.3559G>C (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: | |||||||
rs3388465116 | 1241 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.38218574G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.38218574G>C Locations: - p.Gln1241Glu (Ensembl:ENSMUST00000238906) - c.3721C>G (Ensembl:ENSMUST00000238906) Source type: large scale study Cross-references: |