Variant ID: 16-89986339-C-T

NM_002386.3(MC1R):c.673C>T;(p.His225Tyr)

This variant was identified in 1 publication




Publications:


Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences.

Bmc Genetics
L Fontanesi, F Beretti, V Riggio, S Dall'Olio, EG González, R Finocchiaro, R Davoli, V Russo, B Portolano
Publication Date: 2009-08-25

Variant appearance in text: MC1R: 673C>T
PubMed Link: 19706191
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 1471-2156-10-47-S2.pdf
  • 1471-2156-10-47-S1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1019C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.881G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.673C>T p.His225Tyr missense_variant 1/1 -
ENST00000555427.1 c.673C>T p.His225Tyr missense_variant 3/4 -
ENST00000556922.1 c.673C>T p.His225Tyr missense_variant 1/5 -
NM_002386.3 c.673C>T p.His225Tyr missense_variant 1/1 -