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 9 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000354638.3 | OCA2-001 | 3186 | 838aa | ENSP00000346659.3 | Protein coding | CCDS10020 | C9JDV3 Q04671 | NM_000275.2 | GENCODE basic, |
ENST00000353809.5 | OCA2-002 | 3068 | 814aa | ENSP00000261276.8 | Protein coding | C9JDV3 Q04671 | - | GENCODE basic, | |
ENST00000382996.2 | OCA2-201 | 2117 | 668aa | ENSP00000372457.2 | Protein coding | C9JDV3 Q04671 | - | GENCODE basic, | |
ENST00000431101.1 | OCA2-003 | 996 | 264aa | ENSP00000415431.1 | Protein coding | C9JDV3 | - | CDS 3' incomplete, | |
ENST00000445578.1 | OCA2-004 | 750 | 218aa | ENSP00000414425.1 | Protein coding | C9JLG9 | - | CDS 3' incomplete, |