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See other TH CNV Assays ›
Gene Symbol
TH
Assay Reference Genome
Location

Chr.11:2171813 on build GRCh38
Cytoband
11p15.5
Assay ID Hs02089231_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 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 1 2269 XP_011518637.1
BC104967.1 1 65 AAI04968.1
BC143611.1 1 63
BC143614.1 1 65
DQ677336.1
DQ677337.1
M17589.1 AAA61179.1
M20911.1 AAA61167.1
M20912.1 AAA61168.1
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 MIR4686 INS INS-IGF2 TH
nsv469927 Chr.11:2165105 - 2201683 on Build GRCh38 Loss MIR4686 TH
nsv553068 Chr.11:2096173 - 2174751 on Build GRCh38 Loss MIR4686 INS MIR483 INS-IGF2 IGF2 TH IGF2-AS
nsv951284 Chr.11:2083671 - 2218670 on Build GRCh38 Deletion MIR4686 INS MIR483 INS-IGF2 IGF2 TH IGF2-AS
nsv553047 Chr.11:1733170 - 2418537 on Build GRCh38 Gain TNNI2 INS-IGF2 ASCL2 TNNT3 TSPAN32 MIR7847 TRPM5 TSSC4 IGF2 LINC01219 MIR4298 MRPL23-AS1 H19 CTSD C11orf21 IGF2-AS SYT8 CD81-AS1 MIR675 INS MRPL23 HOTS MIR4686 MIR483 CD81 SNORD131 IFITM10 TH LINC01150 LSP1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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