Product Details

Assay Reference Genome
Location

Chr.3:87254465 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 Exon 7
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHMP2B NM_001244644.1 5 1453 NP_001231573.1
NM_014043.3 6 1545 NP_054762.2
XM_011533576.2 6 1376 XP_011531878.1
AK002165.1 6 1518
AK002180.1 6 1523
AL080122.1 6 1518 CAB45721.1
BC001553.1 6 1361 AAH01553.1

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 POU1F1 MIR4795 CHMP2B
nsv527279 Chr3:86796784 - 87814130 on Build GRCh38 Gain LINC00506 POU1F1 MIR4795 VGLL3 CHMP2B HTR1F

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