Product Details

Assay Reference Genome
Location

Chr.3:87240057 on build GRCh38
Cytoband
3p11.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs148355989] 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.

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

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