Gene: OCA2 ENSG00000104044

Description

oculocutaneous albinism II [Source:HGNC Symbol;Acc:8101]

Gene Synonyms

BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1

Location

GRCh37:CM000677.1

About this gene

This gene has 5 transcripts (splice variants) and is associated with 9 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000354638.3	OCA2-001	3186	838aa	ENSP00000346659.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10020	C9JDV3 Q04671	NM_000275.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000353809.5	OCA2-002	3068	814aa	ENSP00000261276.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3 Q04671	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000382996.2	OCA2-201	2117	668aa	ENSP00000372457.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3 Q04671	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000431101.1	OCA2-003	996	264aa	ENSP00000415431.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000445578.1	OCA2-004	750	218aa	ENSP00000414425.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JLG9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Summary