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MC1R c.122C>T ;(p.S41F)
Variant ID: 16-89985788-C-T
NM_002386.3(
MC1R
):c.122C>T;(p.S41F)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama).
Bmc Genetics
Reiner, Gerald G; Weber, Tim T; Nietfeld, Florian F; Fischer, Dominik D; Wurmser, Christine C; Fries, Ruedi R; Willems, Hermann H
Publication Date: 2020-11-19
Variant appearance in text: MC1R: S41F
PubMed Link:
33213385
Variant Present in the following documents:
Main text
12863_2020_Article_950.pdf
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: MC1R: S41F
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.
Pigment Cell & Melanoma Research
García-Borrón, Jose C JC; Abdel-Malek, Zalfa Z; Jiménez-Cervantes, Celia C
Publication Date: 2014-09
Variant appearance in text: MC1R: S41F
PubMed Link:
24807163
Variant Present in the following documents:
Main text
View BVdb publication page