MC5R
melanocortin 5 receptor
Summary
This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77046774 | 18:13,825,162 | A/G | upstream gene variant | — |
| rs2515192142 | 18:13,826,109 | C/G | — | uncertain significance |
| rs45613135 | 18:13,826,139 | C/T | — | benign |
| rs372320394 | 18:13,826,176 | G/C | — | uncertain significance |
| rs746582014 | 18:13,826,188 | G/C | — | uncertain significance |
| rs2515192344 | 18:13,826,227 | A/G | — | uncertain significance |
| rs200692446 | 18:13,826,235 | G/C | — | uncertain significance |
| rs768853617 | 18:13,826,275 | A/T | — | uncertain significance |
| rs762169294 | 18:13,826,276 | C/T | — | uncertain significance |
| rs757197335 | 18:13,826,315 | C/T | — | uncertain significance |
| rs143398965 | 18:13,826,350 | G/A | — | likely benign |
| rs368486946 | 18:13,826,416 | C/T | — | uncertain significance |
| rs145959981 | 18:13,826,497 | G/T | — | uncertain significance |
| rs1392952757 | 18:13,826,513 | G/T | — | uncertain significance |
| rs781678755 | 18:13,826,570 | A/G | — | uncertain significance |
| rs746344586 | 18:13,826,573 | G/C | — | uncertain significance |
| rs759463255 | 18:13,826,621 | G/T | — | uncertain significance |
| rs757649286 | 18:13,826,647 | T/C | — | uncertain significance |
| rs1226250427 | 18:13,826,732 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.