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 3 |
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 | |||
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 | TH INS MIR4686 INS-IGF2 |
nsv469927 | Chr.11:2165105 - 2201683 on Build GRCh38 | Loss | TH MIR4686 |
nsv553068 | Chr.11:2096173 - 2174751 on Build GRCh38 | Loss | IGF2-AS TH INS MIR4686 INS-IGF2 MIR483 IGF2 |
nsv951284 | Chr.11:2083671 - 2218670 on Build GRCh38 | Deletion | IGF2-AS TH INS MIR4686 INS-IGF2 MIR483 IGF2 |
nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain | TNNT3 TSSC4 CTSD TRPM5 LINC01219 INS-IGF2 ASCL2 MIR675 HOTS IGF2-AS TH CD81 CD81-AS1 MIR4298 IFITM10 TSPAN32 TNNI2 SYT8 MIR483 LINC01150 MRPL23 INS C11orf21 IGF2 MRPL23-AS1 MIR4686 LSP1 MIR7847 SNORD131 H19 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |