Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Ala481Thr (p.A481T)
(
ENST00000354638.8,
ENST00000353809.9 )
OCA2 p.Pro198Leu (p.P198L) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Ala481Thr (p.A481T) ( ENST00000353809.9, ENST00000354638.8 )
OCA2 p.Pro198Leu (p.P198L) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- Oculocutaneous albinism type 2
- Source Database
- DisGeNET
- Description
- Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
- Pubmed
- 12713581
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.563257302464964
- Year of publication
- 2003
Drugs