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.




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