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: | Overlaps Intron 1 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP6 | NM_024591.4 | NP_078867.2 | ||
XM_005257668.1 | XP_005257725.1 | |||
AK021811.1 | BAB13901.1 | |||
AK223187.1 | BAD96907.1 | |||
AK292105.1 | ||||
AY329087.1 | AAQ91196.1 | |||
BC010108.2 | AAH10108.1 | |||
BP196406.1 | ||||
CR457284.1 | CAG33565.1 |
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 | LOC105371921 RPTOR LOC107985022 LOC400627 CHMP6 LOC100129503 |
esv26223 | Chr.17:80659041 - 81736487 on Build GRCh38 | Gain+Loss | MIR3186 LOC101928855 CCDC137 LOC107985021 LINC00482 MIR657 LOC400627 NPLOC4 MIR3065 TSPAN10 LOC100129503 MIR338 ARL16 SLC25A10 AATK MIR6786 BAIAP2-AS1 MRPL12 MIR1250 ACTG1 OXLD1 TEPSIN LOC107985022 FAAP100 BAIAP2 CEP131 BAHCC1 C17orf89 PDE6G SLC38A10 AATK-AS1 FSCN2 LOC105371925 LOC105371921 RPTOR HGS MIR4740 CHMP6 TMEM105 LOC100130370 |
nsv470618 | Chr.17:80952150 - 80997483 on Build GRCh38 | Gain | RPTOR LOC107985022 LOC400627 CHMP6 |
esv3641388 | Chr.17:80978629 - 81012536 on Build GRCh38 | Gain | CHMP6 LOC100129503 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |