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Gene Symbol: TH
Assay Reference Genome Location: Chr.11:2165246 on build GRCh38
Cytoband: 11p15.5

Assay ID

Hs00396656_cn

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Availability	Made To Order
Catalog #	4400291
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Genomic Map
Assay Details
More Information

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:	Overlaps Intron 13 - Exon 13

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
	AA447751.1
	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	INS-IGF2 MIR4686 INS TH
nsv469927	Chr.11:2165105 - 2201683 on Build GRCh38	Loss	MIR4686 TH
nsv553068	Chr.11:2096173 - 2174751 on Build GRCh38	Loss	INS-IGF2 MIR4686 IGF2 IGF2-AS INS TH MIR483
nsv951284	Chr.11:2083671 - 2218670 on Build GRCh38	Deletion	INS-IGF2 MIR4686 IGF2 IGF2-AS INS TH MIR483
nsv553047	Chr.11:1733170 - 2418537 on Build GRCh38	Gain	INS-IGF2 C11orf21 MIR4686 TH LINC01219 MIR7847 MIR675 MIR483 CTSD MIR4298 IFITM10 TNNI2 SYT8 TNNT3 INS TRPM5 TSPAN32 IGF2 HOTS IGF2-AS SNORD131 LSP1 H19 TSSC4 CD81 CD81-AS1 MRPL23 ASCL2 MRPL23-AS1 LINC01150

More Information

Set Membership:

Intragenic

Non-exonic

DGV Variation

Gene Ontology Categories:

Function(s) Process(es)

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