Assay Details
Target Gene Details
Entrez Gene ID: | 51652 |
Gene Name: | charged multivesicular body protein 3 |
Gene Aliases: |
CGI-149, NEDF, VPS24 |
Location: |
Chr.2:86503430-86563497 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP3 | NM_001005753.2 | 5 | 1276 | NP_001005753.1 |
NM_001193517.1 | 6 | 1217 | NP_001180446.1 | |
NM_016079.3 | 6 | 1337 | NP_057163.1 | |
NR_036454.1 | 4 | 1096 | ||
AF151907.1 | 6 | 1206 | AAD34144.1 | |
AK025046.1 | 1 | 233 | ||
AK025260.1 | 6 | 1235 | ||
AK129502.1 | 6 | 1094 | ||
BC004419.1 | 6 | 1235 | AAH04419.1 |
Target Gene Details
Entrez Gene ID: | 100526767 |
Gene Name: | RNF103-CHMP3 readthrough |
Gene Aliases: |
RNF103-VPS24 |
Location: |
Chr.2:86503430-86721122 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RNF103-CHMP3 | NM_001198954.1 | 8 | 1518 | NP_001185883.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv2813 | Chr.2:86480671 - 86514180 on Build GRCh38 | Insertion | CHMP3 RNF103-CHMP3 KDM3A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |