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 Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TH | NM_000360.3 | NP_000351.2 | ||
NM_199292.2 | NP_954986.2 | |||
NM_199293.2 | NP_954987.2 | |||
XM_011520335.2 | XP_011518637.1 | |||
BC104967.1 | AAI04968.1 | |||
BC143611.1 | ||||
BC143614.1 | ||||
DQ677336.1 | ||||
DQ677337.1 | ||||
M17589.1 | AAA61179.1 | |||
M24790.1 | AAA61174.1 | |||
X05290.1 | CAA28908.1 | |||
Y00414.1 | 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 |
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nsv469927 | Chr.11:2165105 - 2201683 on Build GRCh38 | Loss |
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nsv553068 | Chr.11:2096173 - 2174751 on Build GRCh38 | Loss |
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nsv951284 | Chr.11:2083671 - 2218670 on Build GRCh38 | Deletion |
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nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)