Assay Details
Target Gene Details
Entrez Gene ID: | 1861 |
Gene Name: | torsin family 1 member A |
Gene Aliases: |
DQ2, DYT1 |
Location: |
Chr.9:129812942-129824245 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TOR1A | NM_000113.2 | 1 | 205 | NP_000104.1 |
| AF007871.1 | 1 | 170 | AAC51732.1 | |
| AK056062.1 | 1 | 177 | ||
| AK075343.1 | 1 | 155 | ||
| AK294677.1 | 1 | 295 | ||
| AK314505.1 | 1 | 149 | ||
| AU098588.1 | 1 | 230 | ||
| BC000674.2 | 1 | 166 | AAH00674.1 | |
| BC014484.1 | 1 | 147 | AAH14484.1 | |
| BT006931.1 | 1 | 128 | AAP35577.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1144295 | Chr.9:129823521 - 129823921 on Build GRCh38 | Deletion |
|
| nsv1046477 | Chr.9:129608081 - 129997996 on Build GRCh38 | Gain |
|
| esv3621839 | Chr.9:129701704 - 129885823 on Build GRCh38 | Loss |
|
| nsv1076208 | Chr.9:129823320 - 129823921 on Build GRCh38 | Deletion |
|
More Information
Set Membership: |
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Genomic Map