Assay Details
Target Gene Details
Entrez Gene ID: | 79643 |
Gene Name: | charged multivesicular body protein 6 |
Gene Aliases: |
VPS20 |
Location: |
Chr.17:80991841-81000133 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP6 | NM_024591.4 | 8 | 1551 | NP_078867.2 |
AK021811.1 | 8 | 1489 | BAB13901.1 | |
AK223187.1 | 8 | 1513 | BAD96907.1 | |
BC010108.2 | 8 | 1497 | AAH10108.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv952386 | Chr.17:80872501 - 81005700 on Build GRCh38 | Deletion | LOC107985022 LOC105371921 LOC400627 RPTOR CHMP6 LOC100129503 |
esv26223 | Chr.17:80659041 - 81736487 on Build GRCh38 | Gain+Loss | NPLOC4 SLC25A10 RPTOR CHMP6 HGS BAIAP2 AATK-AS1 BAIAP2-AS1 LOC107985022 LOC105371921 ARL16 MIR6786 LOC400627 MIR657 CEP131 AATK SLC38A10 MIR4740 MRPL12 LOC100130370 TSPAN10 FAAP100 MIR3186 CCDC137 MIR338 OXLD1 MIR1250 LOC100129503 FSCN2 BAHCC1 LOC101928855 ACTG1 C17orf89 PDE6G LOC107985021 TMEM105 MIR3065 LINC00482 LOC105371925 TEPSIN |
esv3641388 | Chr.17:80978629 - 81012536 on Build GRCh38 | Gain | CHMP6 LOC100129503 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |