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Human (GRCh37.p13)
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) and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000354638.3OCA2-0013186838aaENSP00000346659.3
 
Protein coding
CCDS10020C9JDV3 Q04671 NM_000275
NP_000266
GENCODE basic
ENST00000353809.5OCA2-0023068814aaENSP00000261276.8
 
Protein coding
C9JDV3 Q04671 -GENCODE basic
ENST00000382996.2OCA2-2012117668aaENSP00000372457.2
 
Protein coding
C9JDV3 Q04671 -GENCODE basic
ENST00000431101.1OCA2-003996264aaENSP00000415431.1
 
Protein coding
C9JDV3 -CDS 3' incomplete
ENST00000445578.1OCA2-004750218aaENSP00000414425.1
 
Protein coding
C9JLG9 -CDS 3' incomplete

Gene-based displays