Hs05480347_cn

• Gene Symbol: PMP22
• Assay Reference Genome Location: Chr.17:15240785 on build GRCh38
• Cytoband: 17p12

Target Gene Details

• Entrez Gene ID: 5376
• Gene Name: peripheral myelin protein 22
• Gene Aliases: CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
• Location: Chr.17:15229777-15265357 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMP22	NM_000304.3			NP_000295.1
	NM_001281455.1			NP_001268384.1
	NM_001281456.1			NP_001268385.1
	NM_153321.2			NP_696996.1
	NM_153322.2			NP_696997.1
	NR_104017.1
	NR_104018.1
	XM_017024775.1			XP_016880264.1
	XM_017024776.1			XP_016880265.1
	AK290640.1
	AK300690.1
	AL833462.1	1	3612
	BC019040.2			AAH19040.2
	BC091499.1			AAH91499.1
	BF725606.1
	BQ232542.1
	BQ694106.1
	BX464118.2
	CR541931.1			CAG46729.1
	CR541953.1			CAG46751.1
	D11428.1			BAA01995.1
	DB466564.1
	DB504971.1
	HY099893.1
	HY119295.1
	KR259962.1
	KR259963.1
	KR259964.1
	L03203.1			AAA58495.1
	M94048.1			AAA36457.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1991	Chr.17:15225960 - 15250740 on Build GRCh38	Insertion	PMP22
esv3640064	Chr.17:15209141 - 15256214 on Build GRCh38	Loss	MIR4731 PMP22
esv3640062	Chr.17:15167541 - 15260216 on Build GRCh38	Loss	MIR4731 PMP22

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Process(es)

chemical synaptic transmission
peripheral nervous system development
cell death
negative regulation of cell proliferation
negative regulation of neuron projection development
bleb assembly
myelination

Function(s)

protein binding