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 | 1235 | NP_078867.2 |
AK021811.1 | 8 | 1173 | BAB13901.1 | |
AK223187.1 | 8 | 1197 | BAD96907.1 | |
BC010108.2 | 8 | 1181 | 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 | LOC100129503 CHMP6 LOC107985022 LOC105371921 LOC400627 RPTOR |
esv26223 | Chr.17:80659041 - 81736487 on Build GRCh38 | Gain+Loss | LOC105371925 FSCN2 LOC100129503 CHMP6 LOC105371921 SLC38A10 LOC400627 BAIAP2-AS1 MIR1250 CCDC137 CEP131 BAIAP2 MIR3186 MIR6786 MIR3065 TSPAN10 FAAP100 PDE6G MIR4740 MIR657 AATK LOC100130370 ACTG1 MRPL12 LOC107985022 TEPSIN C17orf89 RPTOR TMEM105 LOC101928855 MIR338 LOC107985021 NPLOC4 AATK-AS1 OXLD1 ARL16 BAHCC1 SLC25A10 LINC00482 HGS |
esv3641388 | Chr.17:80978629 - 81012536 on Build GRCh38 | Gain | LOC100129503 CHMP6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |