The MC1R gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol MC1R
Gene name melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_012026.1
Transcript reference NM_002386.3
Exon/intron information NM_002386.3 exon/intron table
Associated with diseases analgesia, CMM-5, OCA-2, SHEP-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 139
Unique public DNA variants reported 45
Individuals with public variants 465
Hidden variants 9
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 06, 2012
Date last updated September 15, 2020
Version MC1R:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002386.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6929
Entrez Gene 4157
PubMed articles MC1R
OMIM - Gene 155555
OMIM - Diseases analgesia (analgesia, increased, from kappa-opioid receptor agonist, female-specific)
CMM-5 (melanoma, cutaneous, malignant, susceptibility to, type 5 (CMM-5))
OCA-2 (albinism, oculocutaneous, type II (OCA-2, brown))
SHEP-2 (pigmentation, skin/hair/eye, variation in, type 2 (SHEP-2))
GeneCards MC1R
GeneTests MC1R
Orphanet MC1R

Active transcripts




NCBI ID     

NCBI Protein ID     

00011884 16 melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) NM_002386.3 NP_002377.4 139

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.