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 Exon 1 - Intron 1 |
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 | RPTOR LOC100129503 CHMP6 LOC105371921 LOC107985022 LOC400627 |
esv26223 | Chr.17:80659041 - 81736487 on Build GRCh38 | Gain+Loss | LOC107985021 LOC100130370 RPTOR LOC100129503 CHMP6 LOC105371925 LOC101928855 MIR3065 SLC38A10 MIR338 BAIAP2-AS1 HGS BAHCC1 MIR657 C17orf89 NPLOC4 LOC107985022 TSPAN10 MRPL12 BAIAP2 FAAP100 ACTG1 TEPSIN CCDC137 SLC25A10 MIR6786 MIR4740 FSCN2 ARL16 LOC400627 MIR3186 OXLD1 AATK-AS1 MIR1250 TMEM105 PDE6G LOC105371921 CEP131 AATK LINC00482 |
nsv470618 | Chr.17:80952150 - 80997483 on Build GRCh38 | Gain | RPTOR CHMP6 LOC107985022 LOC400627 |
esv3641388 | Chr.17:80978629 - 81012536 on Build GRCh38 | Gain | LOC100129503 CHMP6 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |