Variant ID: 16-89986353-C-T


This variant was identified in 1 publication


Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

Journal Of Human Genetics
K Yamaguchi, C Watanabe, A Kawaguchi, T Sato, I Naka, M Shindo, K Moromizato, K Aoki, H Ishida, R Kimura
Publication Date: 2012-11-26

Variant appearance in text: MC1R: R229R
PubMed Link: 22854540
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1033C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.867G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.687C>T p.Arg229= synonymous_variant 1/1 -
ENST00000555427.1 c.687C>T p.Arg229= synonymous_variant 3/4 -
ENST00000556922.1 c.687C>T p.Arg229= synonymous_variant 1/5 -
NM_002386.3 c.687C>T p.Arg229= synonymous_variant 1/1 -