MC2R

melanocortin 2 receptor

Summary

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]

Known Variants144 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2045234534	18:13,882,052	C/T	—	uncertain significance
rs150288954	18:13,882,096	A/C	—	benign
rs187121326	18:13,882,192	T/G	—	likely benign
rs2045235792	18:13,882,197	A/G	—	uncertain significance
rs1940906	18:13,882,198	A/G	—	benign
rs893851558	18:13,882,215	T/C	—	uncertain significance
rs1940907	18:13,882,230	G/C	—	benign
rs149107575	18:13,882,301	G/A	—	likely benign
rs551809146	18:13,882,400	T/G	—	likely benign
rs3744819	18:13,882,486	C/A	—	benign
rs193046675	18:13,882,559	C/T	—	likely benign
rs28926189	18:13,882,704	A/T	—	benign
rs1005290429	18:13,882,707	G/T	—	uncertain significance
rs28926188	18:13,882,728	G/A	—	benign
rs3760536	18:13,882,739	A/G	—	benign
rs28926187	18:13,882,747	T/C	—	benign
rs142781228	18:13,882,754	T/C	—	uncertain significance
rs935635102	18:13,882,768	A/G	—	uncertain significance
rs35547931	18:13,882,865	G/T	—	benign
rs886053621	18:13,882,957	C/T	—	uncertain significance
rs570920789	18:13,883,005	C/T	—	likely benign
rs28926185	18:13,883,020	C/G	—	benign
rs150610014	18:13,883,058	C/A	—	uncertain significance
rs34722656	18:13,883,087	T/C	—	uncertain significance
rs1258255213	18:13,883,155	T/C	—	uncertain significance
rs34158267	18:13,883,172	T/C	—	uncertain significance
rs886053622	18:13,883,234	C/T	—	uncertain significance
rs76459561	18:13,883,294	T/C	—	benign
rs886053623	18:13,883,350	A/T	—	uncertain significance
rs886053624	18:13,883,359	T/G	—	uncertain significance
rs114107471	18:13,883,480	C/T	—	benign
rs3888305	18:13,883,525	T/A	—	benign
rs886053625	18:13,883,532	C/T	—	uncertain significance
rs1053713890	18:13,883,556	T/C	—	uncertain significance
rs117631803	18:13,883,563	G/T	—	benign
rs1007872828	18:13,883,581	C/T	—	uncertain significance
rs966371778	18:13,883,585	C/T	—	uncertain significance
rs2045247559	18:13,883,589	C/T	—	uncertain significance
rs886053632	18:13,883,612	A/T	—	uncertain significance
rs886053633	18:13,883,614	A/T	—	uncertain significance
rs1313532679	18:13,883,620	A/T	—	uncertain significance
rs761446119	18:13,883,622	A/T	—	uncertain significance
rs886053636	18:13,883,624	A/T	—	uncertain significance
rs4797823	18:13,883,626	A/T	—	uncertain significance
rs4996467	18:13,883,628	T/A	—	uncertain significance
rs4996466	18:13,883,630	T/A	—	uncertain significance
rs897474751	18:13,883,632	T/A	—	uncertain significance
rs993146709	18:13,883,634	T/A	—	uncertain significance
rs1317072974	18:13,883,653	C/G	—	uncertain significance
rs1053257976	18:13,883,667	G/C	—	uncertain significance
rs886053643	18:13,883,713	T/G	—	uncertain significance
rs28926184	18:13,883,744	G/A	—	benign
rs886053644	18:13,883,762	A/G	—	uncertain significance
rs766857800	18:13,883,776	T/A	—	uncertain significance
rs754283731	18:13,883,833	T/C	—	uncertain significance
rs4308014	18:13,883,939	C/T	—	benign
rs1039130161	18:13,883,951	G/A	—	uncertain significance
rs4464147	18:13,884,009	G/A	—	benign
rs886053645	18:13,884,016	T/C	—	uncertain significance
rs34861769	18:13,884,042	G/T	—	uncertain significance
rs34482956	18:13,884,046	G/T	—	uncertain significance
rs139176501	18:13,884,089	C/G	—	benign
rs28926183	18:13,884,133	T/C	—	benign
rs142527936	18:13,884,153	G/T	—	uncertain significance
rs886053646	18:13,884,154	C/T	—	uncertain significance
rs886053647	18:13,884,190	A/G	—	uncertain significance
rs150928586	18:13,884,197	T/C	—	likely benign
rs553257738	18:13,884,218	G/T	—	uncertain significance
rs749097541	18:13,884,234	T/C	—	uncertain significance
rs886053649	18:13,884,248	C/G	—	uncertain significance
rs768500810	18:13,884,258	C/A	—	uncertain significance
rs369247895	18:13,884,401	A/G	—	uncertain significance
rs184146485	18:13,884,408	C/T	—	uncertain significance
rs149746538	18:13,884,507	T/A	—	likely benign
rs4797824	18:13,884,513	C/T	—	benign
rs4797825	18:13,884,566	C/T	—	benign
rs886053650	18:13,884,597	G/A	—	uncertain significance
rs2149134790	18:13,884,629	A/G	—	likely benign
rs1273423599	18:13,884,649	A/T	—	uncertain significance
rs28926182	18:13,884,685	A/C	—	benign
rs754718068	18:13,884,687	G/T	—	likely benign
rs1351304647	18:13,884,701	G/A	—	likely pathogenic
rs769721256	18:13,884,710	C/T	—	uncertain significance
rs141349908	18:13,884,723	G/A	—	conflicting classifications of pathogenicity
rs367600888	18:13,884,735	G/A	—	likely benign
rs1256103643	18:13,884,751	G/A	—	pathogenic
rs181640454	18:13,884,753	C/T	—	uncertain significance
rs28940892	18:13,884,757	T/C	missense variant	pathogenic
rs554966392	18:13,884,764	C/T	—	likely benign
rs766565660	18:13,884,765	G/A	—	likely benign
rs104894662	18:13,884,766	C/A	missense variant	pathogenic
rs761911005	18:13,884,842	C/G	—	likely pathogenic
rs1555619377	18:13,884,844	A/C	—	pathogenic
rs1401738616	18:13,884,852	G/C	—	uncertain significance
rs368472660	18:13,884,874	A/T	—	uncertain significance
rs760106904	18:13,884,876	G/A	—	likely benign
rs753089914	18:13,884,916	C/T	—	uncertain significance
rs104894659	18:13,884,917	G/A	stop gained	pathogenic
rs886041294	18:13,884,937	—	—	pathogenic
rs762692123	18:13,884,945	G/T	—	pathogenic

Showing 100 of 144 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.