CYP2C18
cytochrome P450 family 2 subfamily C member 18
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 but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12777823 | 10:96,405,502 | G/A | intergenic | drug response |
| rs780078851 | 10:96,443,707 | A/T | — | uncertain significance |
| rs41291550 | 10:96,447,562 | T/A | stop gained | — |
| rs759747828 | 10:96,447,582 | T/C | — | uncertain significance |
| rs748632945 | 10:96,447,635 | G/A | — | likely benign |
| rs2492617613 | 10:96,447,681 | A/C | — | uncertain significance |
| rs767161951 | 10:96,447,974 | G/A | — | uncertain significance |
| rs371910428 | 10:96,447,998 | C/T | — | uncertain significance |
| rs2492618788 | 10:96,448,015 | G/T | — | uncertain significance |
| rs116092201 | 10:96,454,687 | T/C | — | benign |
| rs763494410 | 10:96,454,749 | G/A | — | uncertain significance |
| rs1004256316 | 10:96,454,764 | A/G | — | uncertain significance |
| rs1191831913 | 10:96,454,784 | A/C | — | likely benign |
| rs137908489 | 10:96,454,797 | A/G | — | uncertain significance |
| rs149450201 | 10:96,454,819 | C/T | — | likely benign |
| rs143966491 | 10:96,460,278 | G/A | intron variant | — |
| rs77738774 | 10:96,466,567 | C/T | — | benign |
| rs747780145 | 10:96,466,603 | A/C | — | uncertain significance |
| rs777237591 | 10:96,466,616 | A/G | — | likely benign |
| rs748867249 | 10:96,466,620 | A/G | — | uncertain significance |
| rs1396207009 | 10:96,466,667 | A/G | — | uncertain significance |
| rs764286783 | 10:96,466,694 | T/C | — | uncertain significance |
| rs749885860 | 10:96,480,198 | G/A | — | uncertain significance |
| rs1554844163 | 10:96,480,215 | G/A | — | uncertain significance |
| rs60181876 | 10:96,480,229 | C/T | — | benign |
| rs745873796 | 10:96,480,241 | G/A | — | uncertain significance |
| rs59636573 | 10:96,484,129 | G/T | — | benign |
| rs142667327 | 10:96,484,201 | G/A | — | uncertain significance |
| rs922186863 | 10:96,484,211 | G/A | — | uncertain significance |
| rs889028721 | 10:96,484,213 | T/C | — | uncertain significance |
| rs1847701400 | 10:96,484,217 | T/C | — | uncertain significance |
| rs7094920 | 10:96,492,543 | G/A | intron variant | — |
| rs78319229 | 10:96,493,083 | T/C | — | benign |
| rs201690300 | 10:96,493,115 | C/G | — | uncertain significance |
| rs201619531 | 10:96,493,122 | G/A | — | uncertain significance |
| rs150095869 | 10:96,493,124 | T/A | — | uncertain significance |
| rs111489446 | 10:96,495,053 | G/T | — | benign |
| rs771902308 | 10:96,495,106 | T/C | — | likely benign |
| rs2492711629 | 10:96,495,118 | C/A | — | uncertain significance |
| rs577595661 | 10:96,495,160 | C/T | — | uncertain significance |
| rs1042194 | 10:96,495,484 | G/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.