Assay Details
Target Gene Details
Entrez Gene ID: | 137492 |
Gene Name: | VPS37A, ESCRT-I subunit |
Gene Aliases: |
HCRP1, PQBP2, SPG53 |
Location: |
Chr.8:17246892-17333532 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VPS37A | NM_001145152.1 | NP_001138624.1 | ||
NM_152415.2 | NP_689628.2 | |||
XM_005273400.2 | XP_005273457.1 | |||
XM_005273401.2 | XP_005273458.1 | |||
XM_006716286.1 | XP_006716349.1 | |||
XM_017013021.1 | XP_016868510.1 | |||
XM_017013022.1 | XP_016868511.1 | |||
XM_017013023.1 | XP_016868512.1 | |||
XM_017013024.1 | XP_016868513.1 | |||
XM_017013025.1 | XP_016868514.1 | |||
XM_017013026.1 | XP_016868515.1 | |||
AF547097.1 | ||||
AK057204.1 | BAB71381.1 | |||
AK124607.1 | ||||
AY033079.2 | AAK54349.1 | |||
BC022363.1 | AAH22363.1 | |||
BC067754.1 | AAH67754.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831245 | Chr.8:17255574 - 17450899 on Build GRCh38 | Gain | MTMR7 VPS37A |
nsv610675 | Chr.8:17280178 - 17297923 on Build GRCh38 | Loss | MTMR7 VPS37A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |