Variant ID: 16-89986562-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: 896C>T; Ala299Val
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page

Melanocortin-1 receptor gene variants in four Chinese ethnic populations.

Cell Research
S Peng, XM Lu, HR Luo, JG Xiang-Yu, YP Zhang
Publication Date: 2001-03

Variant appearance in text: MC1R: Ala299Val
PubMed Link: 11305330
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1242C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.658G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.896C>T p.Ala299Val missense_variant 1/1 -
ENST00000555427.1 c.896C>T p.Ala299Val missense_variant 3/4 -
ENST00000556922.1 c.896C>T p.Ala299Val missense_variant 1/5 -
NM_002386.3 c.896C>T p.Ala299Val missense_variant 1/1 -