CYP27C1
cytochrome P450 family 27 subfamily C member 1
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs575267325 | 2:127,944,870 | C/T | — | uncertain significance |
| rs750799119 | 2:127,944,881 | C/T | — | likely benign |
| rs755582900 | 2:127,944,884 | C/G | — | uncertain significance |
| rs143498542 | 2:127,944,885 | C/G | — | uncertain significance |
| rs35075135 | 2:127,944,890 | G/A | — | benign |
| rs750909992 | 2:127,944,929 | T/C | — | uncertain significance |
| rs781517924 | 2:127,950,696 | G/A | — | likely benign |
| rs751573782 | 2:127,950,770 | T/G | — | uncertain significance |
| rs772606875 | 2:127,950,804 | G/A | — | uncertain significance |
| rs566589590 | 2:127,950,819 | G/A | — | uncertain significance |
| rs367605544 | 2:127,950,827 | T/C | — | uncertain significance |
| rs4321325 | 2:127,950,997 | C/T | intron variant | — |
| rs770702757 | 2:127,951,367 | C/T | — | uncertain significance |
| rs956405638 | 2:127,951,385 | C/G | — | uncertain significance |
| rs147953391 | 2:127,953,007 | C/A | — | uncertain significance |
| rs756665338 | 2:127,953,033 | G/T | — | uncertain significance |
| rs754441587 | 2:127,953,076 | G/A | — | uncertain significance |
| rs745713688 | 2:127,956,960 | C/T | — | uncertain significance |
| rs747263768 | 2:127,957,035 | T/C | — | uncertain significance |
| rs773726442 | 2:127,957,058 | C/T | — | uncertain significance |
| rs763255213 | 2:127,957,059 | G/A | — | uncertain significance |
| rs373466702 | 2:127,957,061 | C/T | — | uncertain significance |
| rs149032745 | 2:127,957,087 | C/A | — | uncertain significance |
| rs765028737 | 2:127,958,769 | C/G | — | uncertain significance |
| rs2467926518 | 2:127,958,818 | G/T | — | uncertain significance |
| rs2467929710 | 2:127,960,982 | A/T | — | uncertain significance |
| rs140860017 | 2:127,961,025 | T/C | — | uncertain significance |
| rs756969686 | 2:127,961,091 | G/T | — | uncertain significance |
| rs560900927 | 2:127,961,116 | C/T | — | uncertain significance |
| rs140608390 | 2:127,971,182 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.