CYP39A1
cytochrome P450 family 39 subfamily A 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. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750560255 | 6:46,518,153 | C/T | — | uncertain significance |
| rs1391799128 | 6:46,518,155 | C/T | — | uncertain significance |
| rs12208360 | 6:46,521,249 | A/T | intron variant | — |
| rs548348431 | 6:46,535,735 | A/T | — | — |
| rs2532805691 | 6:46,554,824 | A/G | — | uncertain significance |
| rs7761731 | 6:46,563,817 | A/T | missense variant | — |
| rs141566557 | 6:46,588,112 | G/A | intron variant | — |
| rs2532979103 | 6:46,593,158 | C/T | — | uncertain significance |
| rs137900158 | 6:46,593,166 | A/G | — | uncertain significance |
| rs1775252947 | 6:46,593,170 | C/G | — | uncertain significance |
| rs1775257103 | 6:46,593,211 | T/A | — | uncertain significance |
| rs149313145 | 6:46,593,222 | G/A | — | likely benign |
| rs1775621283 | 6:46,598,705 | C/A | — | uncertain significance |
| rs535899129 | 6:46,598,707 | G/A | — | uncertain significance |
| rs1582440160 | 6:46,598,747 | T/C | — | uncertain significance |
| rs147866724 | 6:46,604,145 | G/C | — | likely benign |
| rs367672552 | 6:46,605,576 | A/T | — | uncertain significance |
| rs755713016 | 6:46,605,663 | A/G | — | likely benign |
| rs1562015003 | 6:46,605,668 | A/C | — | likely benign |
| rs368079075 | 6:46,605,681 | A/C | — | uncertain significance |
| rs552862639 | 6:46,605,684 | G/C | — | uncertain significance |
| rs532333777 | 6:46,605,687 | T/C | — | uncertain significance |
| rs140854197 | 6:46,607,391 | T/C | — | uncertain significance |
| rs666240 | 6:46,607,708 | C/T | intron variant | — |
| rs540612754 | 6:46,609,912 | C/A | — | uncertain significance |
| rs780493299 | 6:46,610,014 | A/G | — | uncertain significance |
| rs776465345 | 6:46,620,191 | A/C | — | uncertain significance |
| rs61661828 | 6:46,620,240 | C/T | — | likely benign |
| rs1263924499 | 6:46,620,241 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.