Hs02872246_cn

• Gene Symbol: PMP2
• Assay Reference Genome Location: Chr.8:81443437 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: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMP2	NM_002677.3			NP_002668.1
	AK307118.1
	AK311758.1
	BC034997.1			AAH34997.1
	CR541649.1			CAG46450.1
	CR541738.1			CAG46538.1
	X62167.1			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	FABP12 CHMP4C SLC10A5 PMP2 ZFAND1 FABP4 IMPA1 FABP9

More Information

Additional Information:

For this assay, SNP(s) [rs72684442,rs79716681] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

transport
membrane organization

Function(s)

transporter activity
fatty acid binding
protein binding
cholesterol binding