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 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TOR1A | NM_000113.2 | 4 | 765 | NP_000104.1 |
| AF007871.1 | 4 | 730 | AAC51732.1 | |
| AK056062.1 | 5 | 644 | ||
| AK075343.1 | 4 | 715 | ||
| AK130769.1 | 3 | 335 | ||
| AK294677.1 | 4 | 855 | ||
| AK314505.1 | 4 | 709 | ||
| BC000674.2 | 4 | 726 | AAH00674.1 | |
| BT006931.1 | 4 | 688 | AAP35577.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1046477 | Chr.9:129608081 - 129997996 on Build GRCh38 | Gain |
|
| esv3621839 | Chr.9:129701704 - 129885823 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map