LOVD MC1R homepage

General information
Gene name melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Gene symbol MC1R
Chromosome Location 16q24.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the MC1R database
Date of creation July 06, 2012
Last update October 03, 2013
Version MC1R131003
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_012026.1
Transcript refseq ID NM_002386.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MC1R database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 6929
Entrez Gene 4157
OMIM - Gene 155555
UniProtKB (SwissProt/TrEMBL) Q01726
HGMD MC1R
GeneCards MC1R
GeneTests MC1R