Variant ID: 16-89986136-C-T


This variant was identified in 2 publications


MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

Pigment Cell & Melanoma Research
JC García-Borrón, Z Abdel-Malek, C Jiménez-Cervantes
Publication Date: 2014-09

Variant appearance in text: MC1R: T157I
PMID: 24807163
View BVdb publication page

Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: MC1R: Thr157Ile
PMID: 20876667
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.816C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.470C>T p.Thr157Ile missense_variant 1/1 -
ENST00000555427.1 c.470C>T p.Thr157Ile missense_variant 3/4 -
ENST00000556922.1 c.470C>T p.Thr157Ile missense_variant 1/5 -
NM_002386.3 c.470C>T p.Thr157Ile missense_variant 1/1 -