OCA2 c.295C>G ;(p.P99A)

Variant ID: 15-28277242-G-C

NM_000275.2(OCA2):c.295C>G;(p.P99A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes.

Molecular Biology Of The Cell
Sitaram, Anand A; Dennis, Megan K MK; Chaudhuri, Rittik R; De Jesus-Rojas, Wilfredo W; Tenza, Danièle D; Setty, Subba Rao Gangi SR; Wood, Christopher S CS; Sviderskaya, Elena V EV; Bennett, Dorothy C DC; Raposo, Graça G; Bonifacino, Juan S JS; Marks, Michael S MS
Publication Date: 2012-08

Variant appearance in text: OCA2: P99A
PubMed Link: 22718909
Variant Present in the following documents:
  • Main text
  • supp_E11-06-0509_CombinedSupMats.pdf
  • 3178.pdf
View BVdb publication page