Variant ID: 16-89986215-C-G

NM_002386.3(MC1R):c.549C>G;(p.Tyr183*)

This variant was identified in 1 publication




Publications:


Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

International Journal Of Cancer
D Scherer, E Nagore, JL Bermejo, A Figl, R Botella-Estrada, RK Thirumaran, S Angelini, K Hemminki, D Schadendorf, R Kumar
Publication Date: 2009-10-15

Variant appearance in text: MC1R: 549C>G; Y183X
PubMed Link: 19585506
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.895C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.549C>G p.Tyr183* stop_gained 1/1 -
ENST00000555427.1 c.549C>G p.Tyr183* stop_gained 3/4 -
ENST00000556922.1 c.549C>G p.Tyr183* stop_gained 1/5 -
NM_002386.3 c.549C>G p.Tyr183* stop_gained 1/1 -