Assay Details
Target Gene Details
Entrez Gene ID: | 9108 |
Gene Name: | myotubularin related protein 7 |
Gene Aliases: |
- |
Location: |
Chr.8:17296794-17413531 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTMR7 | NM_004686.4 | 14 | 5184 | NP_004677.3 |
XM_017013956.1 | 13 | 4873 | XP_016869445.1 | |
AK123201.1 | 1 | 2564 | ||
AW014721.1 | 1 | 119 |
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 Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VPS37A | NM_001145152.1 | 11 | 3386 | NP_001138624.1 |
NM_152415.2 | 12 | 3461 | NP_689628.2 | |
XM_005273400.2 | 13 | 3471 | XP_005273457.1 | |
XM_005273401.2 | 12 | 3417 | XP_005273458.1 | |
XM_006716286.1 | 12 | 3408 | XP_006716349.1 | |
XM_017013021.1 | XP_016868510.1 | |||
XM_017013022.1 | XP_016868511.1 | |||
XM_017013023.1 | 13 | 3453 | XP_016868512.1 | |
XM_017013024.1 | 12 | 3399 | XP_016868513.1 | |
XM_017013025.1 | XP_016868514.1 | |||
XM_017013026.1 | 7 | 2467 | XP_016868515.1 | |
AK090607.1 | 1 | 771 |
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 | VPS37A MTMR7 |
nsv610675 | Chr.8:17280178 - 17297923 on Build GRCh38 | Loss | VPS37A MTMR7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |