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

Chromosome 15: 28,000,021-28,344,504 reverse strand.

GRCh37:CM000677.1

About this gene

This gene has 5 transcripts (splice variants), 196 orthologues, 5 paralogues and is associated with 9 phenotypes.

Transcripts

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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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000353809.5	OCA2-002	3068	814aa	ENSP00000261276.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3 Q04671	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000382996.2	OCA2-201	2117	668aa	ENSP00000372457.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3 Q04671	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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,

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Gene: OCA2 ENSG00000104044

Summary