MC1R c.748T>G ;(p.F250V)

Variant ID: 16-89986414-T-G

NM_002386.3(MC1R):c.748T>G;(p.F250V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sequence characterization and polymorphism of melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia.

Asian-Australasian Journal Of Animal Sciences
Ganbold, Onolragchaa O; Manjula, Prabuddha P; Lee, Seung-Hwan SH; Paek, Woon Kee WK; Seo, Dongwon D; Munkhbayar, Munkhbaatar M; Lee, Jun Heon JH
Publication Date: 2019-07

Variant appearance in text: MC1R: 748T>G; F250V
PubMed Link: 30744336
Variant Present in the following documents:
  • Main text
  • ajas-18-0819-suppl.pdf
  • ajas-18-0819.pdf
View BVdb publication page



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
Fontanesi, Luca L; Beretti, Francesca F; Riggio, Valentina V; Dall'Olio, Stefania S; González, Elena Gómez EG; Finocchiaro, Raffaella R; Davoli, Roberta R; Russo, Vincenzo V; Portolano, Baldassare B
Publication Date: 2009-08-25

Variant appearance in text: MC1R: 748T>G
PubMed Link: 19706191
Variant Present in the following documents:
  • Main text
  • 1471-2156-10-47.pdf
  • 1471-2156-10-47-S2.pdf
  • 1471-2156-10-47-S1.pdf
View BVdb publication page