Variant ID: 16-89986206-C-A

NM_002386.3(MC1R):c.540C>A;(p.Ile180Ile)

This variant was identified in 1 publication




Publications:


Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Molecular Biology And Evolution
C Martínez-Cadenas, S López, G Ribas, C Flores, O García, A Sevilla, I Smith-Zubiaga, M Ibarrola-Villaba, Mdel M Pino-Yanes, J Gardeazabal, D Boyano, A García de Galdeano, N Izagirre, C de la Rúa, S Alonso
Publication Date: 2013-12

Variant appearance in text: MC1R: I180I
PubMed Link: 24045876
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.886C>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.540C>A p.Ile180= synonymous_variant 1/1 -
ENST00000555427.1 c.540C>A p.Ile180= synonymous_variant 3/4 -
ENST00000556922.1 c.540C>A p.Ile180= synonymous_variant 1/5 -
NM_002386.3 c.540C>A p.Ile180= synonymous_variant 1/1 -