CYP2A7
cytochrome P450 family 2 subfamily A member 7
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 protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28553280 | 19:41,380,968 | C/T | — | — |
| rs1645695 | 19:41,381,055 | T/G | — | — |
| rs773157802 | 19:41,381,603 | G/A | — | uncertain significance |
| rs534881248 | 19:41,381,611 | A/C | — | uncertain significance |
| rs1967511448 | 19:41,381,612 | A/G | — | uncertain significance |
| rs775970971 | 19:41,381,617 | A/C | — | uncertain significance |
| rs141182893 | 19:41,381,618 | T/C | — | uncertain significance |
| rs12460590 | 19:41,381,647 | A/C | — | benign |
| rs1399529724 | 19:41,381,663 | A/G | — | uncertain significance |
| rs142299028 | 19:41,381,717 | C/T | — | likely benign |
| rs201393166 | 19:41,381,762 | C/T | — | uncertain significance |
| rs12462918 | 19:41,381,771 | T/A | — | benign |
| rs557819791 | 19:41,382,478 | G/C | — | likely benign |
| rs573187121 | 19:41,382,483 | C/T | — | uncertain significance |
| rs138869707 | 19:41,382,543 | C/T | — | likely benign |
| rs116333747 | 19:41,382,544 | G/A | — | benign |
| rs73553091 | 19:41,383,141 | C/T | — | benign |
| rs150178247 | 19:41,383,171 | A/G | — | uncertain significance |
| rs146328395 | 19:41,383,228 | A/C | — | uncertain significance |
| rs192748618 | 19:41,383,240 | C/G | — | uncertain significance |
| rs201592579 | 19:41,383,250 | C/T | — | uncertain significance |
| rs61736439 | 19:41,383,808 | T/C | — | uncertain significance |
| rs781450031 | 19:41,383,820 | C/T | — | uncertain significance |
| rs144797839 | 19:41,383,846 | G/A | — | uncertain significance |
| rs4079366 | 19:41,384,675 | T/A | missense variant | — |
| rs770865995 | 19:41,384,700 | C/G | — | uncertain significance |
| rs117539170 | 19:41,384,702 | T/C | — | benign |
| rs758994683 | 19:41,384,726 | C/T | — | uncertain significance |
| rs551444191 | 19:41,384,769 | C/A | — | uncertain significance |
| rs146496348 | 19:41,384,798 | G/T | — | uncertain significance |
| rs1216482456 | 19:41,386,013 | C/A | — | uncertain significance |
| rs1405960913 | 19:41,386,050 | A/C | — | uncertain significance |
| rs2516080219 | 19:41,386,095 | C/A | — | uncertain significance |
| rs747399089 | 19:41,386,116 | C/T | — | uncertain significance |
| rs759854971 | 19:41,386,391 | G/C | — | uncertain significance |
| rs754406774 | 19:41,386,399 | T/G | — | likely benign |
| rs757727181 | 19:41,386,403 | C/G | — | uncertain significance |
| rs56081734 | 19:41,386,420 | A/C | — | benign |
| rs373866036 | 19:41,386,434 | C/T | — | uncertain significance |
| rs2516081896 | 19:41,386,474 | G/T | — | uncertain significance |
| rs145474618 | 19:41,386,476 | G/A | — | uncertain significance |
| rs78754793 | 19:41,386,480 | C/G | — | benign |
| rs376282662 | 19:41,386,516 | C/G | — | uncertain significance |
| rs770386243 | 19:41,387,539 | C/T | — | uncertain significance |
| rs778360387 | 19:41,387,599 | C/T | — | uncertain significance |
| rs763031354 | 19:41,387,610 | C/T | — | uncertain significance |
| rs146716059 | 19:41,387,631 | A/G | — | uncertain significance |
| rs1055883561 | 19:41,387,985 | C/T | — | uncertain significance |
| rs199895721 | 19:41,388,012 | G/A | — | uncertain significance |
| rs149348812 | 19:41,388,078 | G/T | — | uncertain significance |
| rs138544645 | 19:41,388,088 | C/T | — | uncertain significance |
| rs199972709 | 19:41,388,100 | G/T | — | uncertain significance |
| rs144056334 | 19:41,388,107 | G/C | — | benign |
| rs754972986 | 19:41,388,109 | C/T | — | uncertain significance |
| rs546812771 | 19:41,388,111 | A/T | — | uncertain significance |
| rs28602288 | 19:41,388,740 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.