Product Details

Assay Reference Genome Location: Chr.3:87253549 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: Overlaps Exon 6 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
CHMP2B	NM_001244644.1			NP_001231573.1
	NM_014043.3			NP_054762.2
	XM_011533576.2			XP_011531878.1
	AF151842.1			AAD34079.1
	AK002165.1
	AK002180.1
	AK222654.1			BAD96374.1
	AK296072.1
	AK316585.1
	AL080122.1			CAB45721.1
	BC001553.1			AAH01553.1
	CR533456.1			CAG38487.1

Target Copy Number Variation Details

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

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

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