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