Hs05366335_cn

• Gene Symbol: OCA2
• Assay Reference Genome Location: Chr.15:27733083 on build GRCh38
• Cytoband: 15q12

Target Gene Details

• Entrez Gene ID: 4948
• Gene Name: OCA2 melanosomal transmembrane protein
• Gene Aliases: BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
• Location: Chr.15:27719008-28099342 on Build GRCh38
• Assay Gene Location: Within Intron 28

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OCA2	XM_017022258.1			XP_016877747.1
	XM_017022264.1			XP_016877753.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2668795	Chr.15:26828644 - 27745218 on Build GRCh38	Deletion	GABRG3-AS1 OCA2 GABRG3 GABRA5
nsv1039154	Chr.15:27707535 - 27947424 on Build GRCh38	Gain	OCA2
nsv1038472	Chr.15:27647423 - 28256473 on Build GRCh38	Gain	OCA2 HERC2
esv34176	Chr.15:27461515 - 27774171 on Build GRCh38	Loss	OCA2 GABRG3
nsv568662	Chr.15:27726493 - 29056123 on Build GRCh38	Gain	LOC101929047 LOC100132202 WHAMMP2 MIR4509-2 APBA2 LOC100289656 LOC645202 GOLGA8M MIR4509-3 LOC107984752 HERC2P9 PDCD6IPP2 GOLGA8F GOLGA6L7P OCA2 HERC2 GOLGA8G HERC2P11

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

eye pigment biosynthetic process
spermatid development
cell proliferation
tyrosine transport
melanocyte differentiation
melanin biosynthetic process
transmembrane transport

Function(s)

transporter activity
L-tyrosine transmembrane transporter activity
protein binding