loading...| Preferred Name |
OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN |
|
| Synonyms |
SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/611409 |
|
| altLabel |
SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR ALBINISM, OCULOCUTANEOUS, TYPE II BROWN OCULOCUTANEOUS ALBINISM PED SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES OCA2 OCA2 GENE PINK-EYED DILUTION P GENE SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
|
| cui |
C0268495 C1417925 C0268497 C1856895 |
|
| Gene Locus |
15q11.2-q12 |
|
| Gene Symbol |
OCA2 HCL3 PED P EYCL3 D15S12 SHEP1 BOCA |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/611409.0004 http://purl.bioontology.org/ontology/OMIM/611409.0009 http://purl.bioontology.org/ontology/OMIM/611409.0007 http://purl.bioontology.org/ontology/OMIM/611409.0008 http://purl.bioontology.org/ontology/OMIM/611409.0003 http://purl.bioontology.org/ontology/OMIM/611409.0001 http://purl.bioontology.org/ontology/OMIM/611409.0005 http://purl.bioontology.org/ontology/OMIM/611409.0002 http://purl.bioontology.org/ontology/OMIM/611409.0006 http://purl.bioontology.org/ontology/OMIM/611409.0012 http://purl.bioontology.org/ontology/OMIM/611409.0014 http://purl.bioontology.org/ontology/OMIM/611409.0013 http://purl.bioontology.org/ontology/OMIM/611409.0011 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
611409 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN |
|
| tui |
T047 T033 T019 T028 |