Assay Details
Target Gene Details
Entrez Gene ID: | 25978 |
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 Transcript 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 | Chr.3:87227951 - 87252550 on Build GRCh38 | Duplication | CHMP2B |
esv3568885 | Chr.3:87182571 - 87518398 on Build GRCh38 | Loss | CHMP2B MIR4795 POU1F1 |
nsv527279 | Chr.3:86796784 - 87814130 on Build GRCh38 | Gain | CHMP2B MIR4795 VGLL3 HTR1F LINC00506 POU1F1 |
More Information
Additional Information:
For this assay, SNP(s) [rs112624215] 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.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |