Assay Details
Target Gene Details
Entrez Gene ID: | 64601 |
Gene Name: | VPS16, CORVET/HOPS core subunit |
Gene Aliases: |
hVPS16 |
Location: |
Chr.20:2840697-2866732 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VPS16 | NM_022575.3 | NP_072097.2 | ||
NM_080413.2 | NP_536338.1 | |||
AF308801.1 | AAG34678.1 | |||
AK055787.1 | BAB71013.1 | |||
BU845142.1 | ||||
CN483115.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3645020 | Chr.20:2816405 - 2926274 on Build GRCh38 | Gain | PCED1A VPS16 TMEM239 PTPRA |
nsv1057464 | Chr.20:2650623 - 2989686 on Build GRCh38 | Gain | PCED1A TMEM239 SNORA51 CPXM1 SNORD110 VPS16 IDH3B SNORD86 SNORD56 MIR1292 C20orf141 NOP56 EBF4 PTPRA SNORD57 |
nsv522009 | Chr.20:2745032 - 3030542 on Build GRCh38 | Gain | PCED1A VPS16 TMEM239 C20orf141 CPXM1 EBF4 PTPRA |
nsv833895 | Chr.20:2730164 - 2882236 on Build GRCh38 | Loss | PCED1A VPS16 TMEM239 C20orf141 CPXM1 EBF4 PTPRA |
nsv3261 | Chr.20:2820663 - 2851754 on Build GRCh38 | Deletion | PCED1A VPS16 |
esv2762056 | Chr.20:2740745 - 2944353 on Build GRCh38 | Gain | PCED1A VPS16 TMEM239 C20orf141 CPXM1 EBF4 PTPRA |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |