SQOR
sulfide quinone oxidoreductase
Summary
The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs607541 | 15:45,934,869 | C/G | — | — |
| rs757034077 | 15:45,951,204 | G/A | — | uncertain significance |
| rs778061542 | 15:45,951,285 | G/T | — | uncertain significance |
| rs376077055 | 15:45,951,302 | C/T | — | uncertain significance |
| rs535949978 | 15:45,951,303 | G/A | — | uncertain significance |
| rs191757287 | 15:45,951,342 | T/C | — | uncertain significance |
| rs926833757 | 15:45,954,154 | G/A | — | uncertain significance |
| rs2542350376 | 15:45,954,161 | C/A | — | uncertain significance |
| rs190637341 | 15:45,954,219 | C/T | — | uncertain significance |
| rs748618342 | 15:45,954,315 | G/A | — | uncertain significance |
| rs772223842 | 15:45,965,848 | C/G | — | uncertain significance |
| rs776794288 | 15:45,965,971 | T/C | — | uncertain significance |
| rs762256045 | 15:45,965,982 | G/A | — | pathogenic |
| rs367929021 | 15:45,968,356 | G/A | — | uncertain significance |
| rs2542363997 | 15:45,968,413 | G/A | — | uncertain significance |
| rs1044032 | 15:45,968,435 | T/C | missense variant | — |
| rs375792269 | 15:45,968,464 | G/A | — | uncertain significance |
| rs1453432704 | 15:45,968,480 | A/G | — | uncertain significance |
| rs2028589 | 15:45,973,510 | C/T | downstream gene variant | — |
| rs12913151 | 15:45,973,570 | G/C | — | — |
| rs769425636 | 15:45,974,718 | G/A | — | uncertain significance |
| rs140459079 | 15:45,974,763 | G/A | — | likely benign |
| rs766026112 | 15:45,974,848 | C/T | — | uncertain significance |
| rs1273130332 | 15:45,980,553 | T/G | — | uncertain significance |
| rs1890272471 | 15:45,981,258 | C/T | — | uncertain significance |
| rs560032079 | 15:45,981,330 | C/T | — | uncertain significance |
| rs767249065 | 15:45,981,384 | A/G | — | uncertain significance |
| rs948618483 | 15:45,981,387 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.