OCA2 c.228-14503G>A

Variant ID: 15-28291812-C-T

NM_000275.2(OCA2):c.228-14503G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs1375164
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Eye color prediction using single nucleotide polymorphisms in Saudi population.

Saudi Journal Of Biological Sciences
Alghamdi, Jahad J; Amoudi, Manal M; Kassab, Ahmad Ch AC; Al Mufarrej, Mansour M; Al Ghamdi, Saleh S
Publication Date: 2019-11

Variant appearance in text: rs1375164
PubMed Link: 31762634
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.

Investigative Genetics
de Gruijter, Johanna Maria JM; Lao, Oscar O; Vermeulen, Mark M; Xue, Yali Y; Woodwark, Cara C; Gillson, Christopher J CJ; Coffey, Alison J AJ; Ayub, Qasim Q; Mehdi, S Qasim SQ; Kayser, Manfred M; Tyler-Smith, Chris C
Publication Date: 2011-12-01

Variant appearance in text: rs1375164
PubMed Link: 22133426
Variant Present in the following documents:
  • Main text
  • 2041-2223-2-24.pdf
View BVdb publication page



A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics
Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA
Publication Date: 2007-02

Variant appearance in text: rs1375164
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page