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 3 - Intron 3 |
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 | LOC107985022 LOC105371921 RPTOR CHMP6 LOC100129503 LOC400627 |
esv26223 | Chr.17:80659041 - 81736487 on Build GRCh38 | Gain+Loss | LINC00482 BAHCC1 ARL16 OXLD1 MIR4740 SLC25A10 LOC100130370 MIR657 MIR3065 AATK C17orf89 FSCN2 LOC105371925 CHMP6 LOC400627 PDE6G CEP131 ACTG1 LOC101928855 TSPAN10 LOC105371921 LOC100129503 MIR3186 FAAP100 TMEM105 MIR338 AATK-AS1 CCDC137 LOC107985022 MIR6786 SLC38A10 HGS MRPL12 RPTOR NPLOC4 TEPSIN MIR1250 LOC107985021 BAIAP2-AS1 BAIAP2 |
nsv470618 | Chr.17:80952150 - 80997483 on Build GRCh38 | Gain | LOC107985022 RPTOR CHMP6 LOC400627 |
esv3641388 | Chr.17:80978629 - 81012536 on Build GRCh38 | Gain | CHMP6 LOC100129503 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |