Hs01170716_cn

• Gene Symbol: PMP2
• Assay Reference Genome Location: Chr.8:81442971 on build GRCh38
• Cytoband: 8q21.13

Target Gene Details

• Entrez Gene ID: 5375
• Gene Name: peripheral myelin protein 2
• Gene Aliases: FABP8, M-FABP, MP2, P2
• Location: Chr.8:81440326-81447484 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMP2	NM_002677.3	4	924	NP_002668.1
	AK307118.1	3	706
	BC034997.1	4	929	AAH34997.1
	DQ786226.1	1	182
	X62167.1	4	860	CAA44096.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv611607	Chr.8:81405621 - 81768032 on Build GRCh38	Gain	FABP4 ZFAND1 FABP12 SLC10A5 PMP2 FABP9 CHMP4C IMPA1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transport
membrane organization

Function(s)

transporter activity
fatty acid binding
protein binding
cholesterol binding