OCA2 c.2079+145T>C

Variant ID: 15-28171128-A-G

NM_000275.2(OCA2):c.2079+145T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: OCA2: 2079+145T>C; rs3751651
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
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: rs3751651
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page