Assay Details
Target Gene Details
Entrez Gene ID: | 7054 |
Gene Name: | tyrosine hydroxylase |
Gene Aliases: |
DYT14, DYT5b, TYH |
Location: |
Chr.11:2163929-2174081 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TH | NM_000360.3 | 13 | 1656 | NP_000351.2 |
| NM_199292.2 | 14 | 1749 | NP_954986.2 | |
| NM_199293.2 | 14 | 1737 | NP_954987.2 | |
| XM_011520335.2 | 13 | 3944 | XP_011518637.1 | |
| AA447751.1 | 1 | 164 | ||
| DQ677336.1 | 11 | 1364 | ||
| DQ677337.1 | 11 | 1376 | ||
| M17589.1 | 14 | 1739 | AAA61179.1 | |
| X05290.1 | 13 | 1656 | CAA28908.1 | |
| Y00414.1 | 14 | 1731 | CAA68472.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv553070 | Chr.11:2154812 - 2177188 on Build GRCh38 | Loss |
|
| nsv553068 | Chr.11:2096173 - 2174751 on Build GRCh38 | Loss |
|
| nsv951284 | Chr.11:2083671 - 2218670 on Build GRCh38 | Deletion |
|
| nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain |
|
More Information
Set Membership: |
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Genomic Map