CYP20A1
cytochrome P450 family 20 subfamily A member 1
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2066147318 | 2:204,103,856 | C/A | — | uncertain significance |
| rs57235969 | 2:204,105,403 | C/T | intron variant | — |
| rs62183874 | 2:204,106,164 | A/G | intron variant | — |
| rs1159705696 | 2:204,110,615 | A/C | — | uncertain significance |
| rs56317341 | 2:204,110,748 | G/A | intron variant | — |
| rs778089616 | 2:204,111,523 | G/T | — | uncertain significance |
| rs2470571285 | 2:204,111,528 | T/A | — | uncertain significance |
| rs138703629 | 2:204,111,538 | G/T | — | uncertain significance |
| rs2066474536 | 2:204,111,548 | T/G | — | uncertain significance |
| rs2470571468 | 2:204,111,555 | C/T | — | uncertain significance |
| rs150778410 | 2:204,111,581 | C/T | — | uncertain significance |
| rs928420899 | 2:204,111,630 | A/G | — | uncertain significance |
| rs200681711 | 2:204,116,764 | A/G | — | uncertain significance |
| rs2067333881 | 2:204,131,354 | A/C | — | uncertain significance |
| rs72938327 | 2:204,134,282 | A/T | — | — |
| rs200422506 | 2:204,137,415 | G/C | — | uncertain significance |
| rs201185429 | 2:204,137,450 | C/T | — | uncertain significance |
| rs2470794845 | 2:204,143,352 | A/G | — | uncertain significance |
| rs558394525 | 2:204,143,365 | A/G | — | uncertain significance |
| rs371111502 | 2:204,144,824 | A/G | — | uncertain significance |
| rs757426925 | 2:204,150,410 | T/C | — | uncertain significance |
| rs62183910 | 2:204,152,135 | C/T | intron variant | — |
| rs367988513 | 2:204,154,558 | G/A | — | uncertain significance |
| rs138248522 | 2:204,154,575 | T/G | — | benign |
| rs754469820 | 2:204,157,006 | G/T | — | uncertain significance |
| rs375166119 | 2:204,157,007 | G/A | — | uncertain significance |
| rs142547646 | 2:204,161,222 | G/A | — | benign |
| rs368620933 | 2:204,161,264 | A/T | — | uncertain significance |
| rs141888883 | 2:204,161,510 | T/A | — | uncertain significance |
| rs762579762 | 2:204,161,552 | G/A | — | uncertain significance |
| rs145551810 | 2:204,161,606 | G/C | — | uncertain significance |
| rs11888559 | 2:204,165,171 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.