Variant ID: 16-89986082-C-T

NM_002386.3(MC1R):c.416C>T;(p.Ala139Val)

This variant was identified in 2 publications




Publications:


Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine.

Journal, Genetic Engineering & Biotechnology
TS Goud, RC Upadhyay, VBR Pichili, SK Onteru, K Chadipiralla
Publication Date: 2021-01-29

Variant appearance in text: MC1R: 416C>T
PubMed Link: 33512595
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
AE BarĂ³n, NL Asdigian, V Gonzalez, J Aalborg, T Terzian, RA Stiegmann, EC Torchia, M Berwick, RP Dellavalle, JG Morelli, ST Mokrohisky, LA Crane, NF Box
Publication Date: 2014-12

Variant appearance in text: MC1R: A139V
PubMed Link: 25410285
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.762C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.416C>T p.Ala139Val missense_variant 1/1 -
ENST00000555427.1 c.416C>T p.Ala139Val missense_variant 3/4 -
ENST00000556922.1 c.416C>T p.Ala139Val missense_variant 1/5 -
NM_002386.3 c.416C>T p.Ala139Val missense_variant 1/1 -