Assay Details
Target Gene Details
Entrez Gene ID: | 57132 |
Gene Name: | charged multivesicular body protein 1B |
Gene Aliases: |
C10orf2, C18-ORF2, C18orf2, CHMP1.5, Vps46-2, Vps46B, hVps46-2 |
Location: |
Chr.18:11851390-11854449 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP1B | NM_020412.4 | 1 | 583 | NP_065145.2 |
AF281064.1 | 1 | 505 | AAG01449.1 | |
AK314068.1 | 1 | 578 | ||
BC012733.2 | 1 | 515 | ||
BC065933.1 | 1 | 546 | AAH65933.1 | |
BX494191.1 |
Target Gene Details
Entrez Gene ID: | 2774 |
Gene Name: | G protein subunit alpha L |
Gene Aliases: |
DYT25 |
Location: |
Chr.18:11688956-11885685 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GNAL | NM_001142339.2 | NP_001135811.1 | ||
NM_001261443.1 | NP_001248372.1 | |||
NM_182978.3 | NP_892023.1 | |||
AF493893.1 | AAM12607.1 | |||
AK090868.1 | BAC03535.1 | |||
AK290054.1 | ||||
AK295088.1 | ||||
AK313902.1 | ||||
BC050021.1 | AAH50021.1 | |||
BP230966.1 | ||||
L10665.1 | AAC37535.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1057995 | Chr.18:10626172 - 11923368 on Build GRCh38 | Gain | MIR6788 MPPE1 PIEZO2 GNAL SLC35G4 MIR7153 LOC101927410 CHMP1B LINC01255 |
esv3641815 | Chr.18:11840726 - 11854124 on Build GRCh38 | Gain | GNAL CHMP1B |
nsv833590 | Chr.18:11757330 - 11924540 on Build GRCh38 | Gain | MPPE1 GNAL CHMP1B |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |