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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTMR7 | NM_004686.4 | 11 | 1444 | NP_004677.3 |
XM_006716414.3 | 6 | 1810 | XP_006716477.2 | |
XM_011544692.2 | 8 | 883 | XP_011542994.1 | |
XM_011544693.2 | 7 | 1345 | XP_011542995.1 | |
XM_017013956.1 | 10 | 1133 | XP_016869445.1 | |
AF073482.1 | 7 | 713 | AAC77820.1 | |
AK294468.1 | 11 | 1205 | ||
AK303762.1 | 3 | 267 | ||
AK303803.1 | 2 | 217 | ||
AK316022.1 | 11 | 1254 | ||
AK316283.1 | 11 | 1264 | ||
BC130577.1 | 11 | 1230 | ||
BC130579.1 | 11 | 1230 | ||
CR749240.1 | 11 | 1242 | CAH18096.1 |
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 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VPS37A | XM_017013022.1 | XP_016868511.1 | ||
XM_017013025.1 | XP_016868514.1 |
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 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |