Eye diseases - LOVD
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R)
LOVD v.2.0 Build 35 [
Current LOVD status
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Curator:
LOVD-team, but with Curator vacancy
MC1R homepage
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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
July 06, 2012
Version
MC1R120706
Add sequence variant
Submit a sequence variant
First time submitters
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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
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©2004-2012
Leiden University Medical Center