Assay Details
Target Gene Details
Entrez Gene ID: | 51510 |
Gene Name: | charged multivesicular body protein 5 |
Gene Aliases: |
C9orf83, CGI-34, HSPC177, PNAS-2, SNF7DC2, Vps60 |
Location: |
Chr.9:33264879-33282069 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP5 | NM_001195536.1 | NP_001182465.1 | ||
NM_016410.5 | NP_057494.3 | |||
AF132968.1 | AAD27743.1 | |||
AF161525.1 | AAF29140.1 | |||
AF229832.1 | AAF42917.1 | |||
AF275810.1 | AAG23821.1 | |||
AK024753.1 | ||||
AK295744.1 | ||||
AK315455.1 | ||||
BC006974.1 | AAH06974.1 | |||
BC007457.1 | AAH07457.1 | |||
BC016698.1 | AAH16698.1 | |||
BC020796.1 | AAH20796.1 | |||
BC021168.1 | AAH21168.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519369 | Chr.9:33134619 - 33283163 on Build GRCh38 | Gain | SPINK4 B4GALT1-AS1 B4GALT1 BAG1 CHMP5 |
dgv7516n100 | Chr.9:33121909 - 33278846 on Build GRCh38 | Gain | SPINK4 B4GALT1-AS1 B4GALT1 BAG1 CHMP5 |
nsv614146 | Chr.9:33186158 - 33398608 on Build GRCh38 | Gain | SPINK4 BAG1 NFX1 AQP7 CHMP5 |
More Information
Additional Information:
For this assay, SNP(s) [rs117174222] 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 |