Product Details

Assay Reference Genome Location: Chr.3:87237130 on build GRCh38
Cytoband: 3p11.2
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 25978
Gene Symbol: CHMP2B
Gene Name: charged multivesicular body protein 2B
Gene Aliases: ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B
Location: Chr.3:87227263-87255548 on build GRCh38
Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
CHMP2B	NM_001244644.1			NP_001231573.1
	NM_014043.3			NP_054762.2
	AF151842.1			AAD34079.1
	AK002165.1
	AK002180.1
	AK222654.1			BAD96374.1
	AK296072.1
	AK316585.1
	AL080122.1			CAB45721.1
	BC001553.1			AAH01553.1
	BI821848.1
	BM828410.1
	CR533456.1			CAG38487.1
	DA426159.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953231	Chr3:87227951 - 87252550 on Build GRCh38	Duplication	CHMP2B
esv3568885	Chr3:87182571 - 87518398 on Build GRCh38	Loss	MIR4795 POU1F1 CHMP2B
nsv527279	Chr3:86796784 - 87814130 on Build GRCh38	Gain	MIR4795 POU1F1 VGLL3 HTR1F CHMP2B LINC00506

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