TYR c.138T>A ;(p.C46*)

Variant ID: 11-88911259-T-A

NM_000372.4(TYR):c.138T>A;(p.C46*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).

Bmc Genetics
Galante Rocha de Vasconcelos, Felipe Tadeu FT; Hauzman, Einat E; Dutra Henriques, Leonardo L; Kilpp Goulart, Paulo Roney PR; de Faria Galvão, Olavo O; Sano, Ronaldo Yuiti RY; da Silva Souza, Givago G; Lynch Alfaro, Jessica J; de Lima Silveira, Luis Carlos LC; Fix Ventura, Dora D; Oliveira Bonci, Daniela Maria DM
Publication Date: 2017-05-05

Variant appearance in text: TYR: C46X
PubMed Link: 28476152
Variant Present in the following documents:
  • Main text
  • 12863_2017_Article_504.pdf
View BVdb publication page