Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:affects |
eye color
hair pigmentation skin pigmentation |
| gptkbp:alsoKnownAs |
gptkb:OCA2
|
| gptkbp:associatedWith |
albinism
|
| gptkbp:discoveredIn |
mice
|
| gptkbp:encodes |
gptkb:P_protein
|
| gptkbp:Entrez_Gene_ID |
18213 (mouse)
4948 (human) |
| gptkbp:foundIn |
humans
mice |
| https://www.w3.org/2000/01/rdf-schema#label |
pink-eyed dilution gene
|
| gptkbp:involvedIn |
melanin biosynthesis
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7_(mouse)
gptkb:chromosome_15_(human) minus (mouse) plus (human) |
| gptkbp:mutationAssociatedWith |
gptkb:oculocutaneous_albinism_type_2_(OCA2)_in_humans
recessive pink eyes in mice |
| gptkbp:OMIM |
203200
|
| gptkbp:orthologIn |
gptkb:OCA2_(human)
gptkb:Oca2_(mouse) |
| gptkbp:bfsParent |
gptkb:OCA2_gene
gptkb:OCA2 |
| gptkbp:bfsLayer |
7
|