Hs05335967_cn

• Gene Symbol: OCA2
• Assay Reference Genome Location: Chr.15:27768163 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 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OCA2	NM_000275.2			NP_000266.2
	NM_001300984.1			NP_001287913.1
	XM_011521640.2			XP_011519942.1
	XM_017022255.1			XP_016877744.1
	XM_017022256.1			XP_016877745.1
	XM_017022257.1			XP_016877746.1
	XM_017022258.1			XP_016877747.1
	XM_017022259.1			XP_016877748.1
	XM_017022260.1			XP_016877749.1
	XM_017022261.1			XP_016877750.1
	XM_017022262.1			XP_016877751.1
	XM_017022263.1			XP_016877752.1
	XM_017022264.1			XP_016877753.1
	BC012097.1			AAH12097.1
	BX398277.1
	M99564.1			AAA36477.1

Target Copy Number Variation Details

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

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

More Information

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

Panther Classification:

Molecular Function -

primary active transporter, 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