MC1R c.366G>A ;(p.V122=)

Variant ID: 16-89986032-G-A

NM_002386.3(MC1R):c.366G>A;(p.V122=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N
Publication Date: 2014

Variant appearance in text: MC1R: 366G>A; V122V
PubMed Link: 24982914
Variant Present in the following documents:
  • Main text
  • BMRI2014-925716.pdf
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT
Publication Date: 2008-04-10

Variant appearance in text: N/A
PubMed Link: 18402696
Variant Present in the following documents:
View BVdb publication page