Variant ID: 16-89986593-C-T

NM_002386.3(MC1R):c.927C>T;(p.Leu309Leu)

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: 927C>T
PubMed Link: 33512595
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
HH Hu, M Benfodda, N Dumaz, S Gazal, V Descamps, A Bourillon, N Basset-Seguin, A Riffault, K Ezzedine, M Bagot, A Bensussan, P Saiag, B Grandchamp, N Soufir
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1273C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.627G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.927C>T p.Leu309= synonymous_variant 1/1 -
ENST00000555427.1 c.927C>T p.Leu309= synonymous_variant 3/4 -
ENST00000556922.1 c.927C>T p.Leu309= synonymous_variant 1/5 -
NM_002386.3 c.927C>T p.Leu309= synonymous_variant 1/1 -