Hs01378024_cn

• Gene Symbol: PXMP2
• Assay Reference Genome Location: Chr.12:132696048 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 5827
• Gene Name: peroxisomal membrane protein 2
• Gene Aliases: PMP22
• Location: Chr.12:132687606-132704991 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PXMP2	NM_018663.2			NP_061133.1
	AF250136.1			AAF73963.1
	AY044439.1			AAK95858.1
	BC009836.1			AAH09836.1
	BC073997.1			AAH73997.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv820594	Chr.12:132691884 - 132696014 on Build GRCh38	Deletion	PXMP2
nsv952512	Chr.12:132192256 - 132711214 on Build GRCh38	Deletion	FBRSL1 GALNT9 POLE LOC100130238 MIR6763 LOC100996573 PGAM5 LOC105370092 LOC101928416 MUC8 PXMP2 P2RX2 LRCOL1
esv3631309	Chr.12:132688042 - 132708784 on Build GRCh38	Gain	PXMP2
esv2422284	Chr.12:132604248 - 132708921 on Build GRCh38	Deletion	POLE PXMP2 P2RX2 LRCOL1
nsv1047500	Chr.12:132666737 - 132763400 on Build GRCh38	Gain	ANKLE2 POLE PGAM5 PXMP2
nsv1037074	Chr.12:132613063 - 132801953 on Build GRCh38	Gain	ANKLE2 POLE GOLGA3 PGAM5 PXMP2 P2RX2

More Information

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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

protein binding