Variant ID: 16-89985855-C-A


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: I63I
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.535C>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.189C>A p.Ile63= synonymous_variant 1/1 -
ENST00000555427.1 c.189C>A p.Ile63= synonymous_variant 3/4 -
ENST00000556922.1 c.189C>A p.Ile63= synonymous_variant 1/5 -
NM_002386.3 c.189C>A p.Ile63= synonymous_variant 1/1 -