MC1R

melanocortin 1 receptor

Summary

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]

Known Variants407 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19237866616:89,984,168C/A—benign
rs54654291416:89,984,296C/G—benign
rs88605249116:89,984,360A/C—uncertain significance
rs321235416:89,984,370T/C—benign
rs321235516:89,984,378C/T—likely benign
rs88605249216:89,984,393G/C—uncertain significance
rs56973599316:89,984,404G/A—uncertain significance
rs53644753716:89,984,416C/T—benign
rs92676136316:89,984,424G/A—uncertain significance
rs88605249316:89,984,432A/T—uncertain significance
rs53053615616:89,984,433C/T—benign
rs159741382416:89,984,437C/T—uncertain significance
rs86628737416:89,984,458C/T—uncertain significance
rs88605249416:89,984,490G/C—uncertain significance
rs321235616:89,984,497C/G—likely benign
rs86675014416:89,984,510A/C—uncertain significance
rs37023844316:89,984,524C/T—uncertain significance
rs88605249516:89,984,525G/A—uncertain significance
rs99043514916:89,984,542C/T—uncertain significance
rs99229982716:89,984,569C/T—uncertain significance
rs5866494216:89,984,575G/A—benign
rs321235716:89,984,604T/C—benign
rs56363870016:89,984,651C/G—benign
rs88605249616:89,984,661G/T—uncertain significance
rs77649497416:89,984,667G/C—uncertain significance
rs88605249716:89,984,679A/C—uncertain significance
rs88605249816:89,984,692G/A—uncertain significance
rs90001669116:89,984,701C/T—uncertain significance
rs53101289016:89,984,715C/T—uncertain significance
rs129665639216:89,984,716G/A—uncertain significance
rs321235816:89,984,739A/G—benign
rs55268812516:89,984,758A/G—uncertain significance
rs204567842716:89,984,883A/G—uncertain significance
rs88605249916:89,984,944T/C—uncertain significance
rs204567904316:89,984,945G/C—uncertain significance
rs86819750116:89,985,067C/T—uncertain significance
rs93291834416:89,985,100C/T—uncertain significance
rs37271955816:89,985,117G/A—likely benign
rs321237916:89,985,131C/T—benign
rs55757697816:89,985,132G/A—benign
rs88605250016:89,985,159C/T—uncertain significance
rs55318486816:89,985,163G/A—uncertain significance
rs321235916:89,985,177C/T—benign
rs36826232416:89,985,202C/G—uncertain significance
rs321236016:89,985,217C/T—benign
rs321236116:89,985,222G/A—benign
rs55505889716:89,985,293G/A—benign
rs7633733016:89,985,311A/G—benign
rs76070265016:89,985,317C/G—uncertain significance
rs132431353016:89,985,323C/T—uncertain significance
rs54065042216:89,985,329C/T—uncertain significance
rs321236216:89,985,344G/A—benign
rs57544153416:89,985,394G/C—uncertain significance
rs321236316:89,985,441A/T—benign
rs14800335516:89,985,553G/A—benign
rs57790798516:89,985,557A/C—uncertain significance
rs88605250216:89,985,566G/T—uncertain significance
rs88605250316:89,985,569C/G—uncertain significance
rs37578979516:89,985,654C/T—benign
rs117126932416:89,985,670G/T—uncertain significance
rs204568839916:89,985,673G/A—uncertain significance
rs204568842216:89,985,676C/T—uncertain significance
rs254460851816:89,985,677A/T—uncertain significance
rs78154981816:89,985,686A/G—uncertain significance
rs55483193516:89,985,689G/A—conflicting classifications of pathogenicity
rs37399001916:89,985,701G/A—uncertain significance
rs77159698616:89,985,710A/C—uncertain significance
rs127156613816:89,985,711C/G—uncertain significance
rs141099761716:89,985,714C/T—likely benign
rs74677494816:89,985,716C/A—uncertain significance
rs77665421116:89,985,718C/G—uncertain significance
rs37204107116:89,985,722C/T—uncertain significance
rs214439078616:89,985,729C/T—likely benign
rs77339582216:89,985,732C/T—conflicting classifications of pathogenicity
rs20153313716:89,985,733C/T—conflicting classifications of pathogenicity
rs54042476116:89,985,740G/A—uncertain significance
rs37161893316:89,985,741G/T—conflicting classifications of pathogenicity
rs77740090616:89,985,742C/G—uncertain significance
rs204568990716:89,985,752A/G—uncertain significance
rs75657902416:89,985,754C/T—uncertain significance
rs88605250516:89,985,763G/C—uncertain significance
rs121546534016:89,985,764C/T—uncertain significance
rs37667950316:89,985,766C/A—uncertain significance
rs36901655316:89,985,767G/A—conflicting classifications of pathogenicity
rs75813567316:89,985,768G/C—likely benign
rs77950460416:89,985,770G/A—uncertain significance
rs204569020516:89,985,772C/G—uncertain significance
rs20005020616:89,985,778G/A—uncertain significance
rs155562373816:89,985,784A/C—uncertain significance
rs155562373916:89,985,786C/T—likely benign
rs36967416116:89,985,788C/G—uncertain significance
rs204569037716:89,985,790G/C—uncertain significance
rs37324140116:89,985,792C/T—likely benign
rs56499921116:89,985,793G/A—uncertain significance
rs92157746916:89,985,795G/C—likely benign
rs132137530816:89,985,797T/C—uncertain significance
rs6199634416:89,985,799T/C—likely benign
rs76790596016:89,985,801C/G—likely benign
rs77580679116:89,985,802C/T—uncertain significance
rs37115685816:89,985,806G/T—likely benign

Showing 100 of 407 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.