OCA2 c.1008C>T ;(p.A336=)

Variant ID: 15-28259958-G-A

NM_000275.2(OCA2):c.1008C>T;(p.A336=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: OCA2: A336A
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: OCA2: Ala336Ala
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page