Hs03012292_cn

• Gene Symbol: PMEL
• Assay Reference Genome Location: Chr.12:55955319 on build GRCh38
• Cytoband: 12q13.2

Target Gene Details

• Entrez Gene ID: 6490
• Gene Name: premelanosome protein
• Gene Aliases: D12S53E, ME20, ME20-M, ME20M, P1, P100, PMEL17, SI, SIL, SILV, gp100
• Location: Chr.12:55954105-55966712 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMEL	NM_001200053.1			NP_001186982.1
	NM_001200054.1	10	1877	NP_001186983.1
	NM_001320121.1	11	1751	NP_001307050.1
	NM_001320122.1			NP_001307051.1
	NM_006928.4			NP_008859.1
	XM_006719569.1			XP_006719632.1
	XM_011538685.1	11	1941	XP_011536987.1
	AK092881.1
	AK130180.1
	AK300150.1
	BC001414.2			AAH01414.1
	BT007202.1			AAP35866.1
	CA432578.1
	M32295.1			AAA35930.1
	M77348.1	10	1837	AAA60121.1
	S73003.1			AAC60634.1
	U01874.1			AAA18479.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832424	Chr.12:55881442 - 56073133 on Build GRCh38	Loss	PMEL CDK2 SUOX RAB5B LOC105369781 RPS26 DGKA PYM1 IKZF4
nsv1051961	Chr.12:55868436 - 56235643 on Build GRCh38	Gain	ERBB3 PMEL SUOX RAB5B SMARCC2 RPL41 NABP2 PA2G4 PYM1 CDK2 LOC107987175 SLC39A5 ESYT1 MYL6 LOC105369781 MYL6B RPS26 DGKA IKZF4 RNF41 ZC3H10

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane-bound signaling molecule

Gene Ontology Categories:

Process(es)

melanosome organization
melanin biosynthetic process
developmental pigmentation

Function(s)

protein binding