Hs06333532_cn

• Gene Symbol: TH
• Assay Reference Genome Location: Chr.11:2172430 on build GRCh38
• Cytoband: 11p15.5

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	XM_011520335.2	1	1652	XP_011518637.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs76351668] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to hypoxia
synaptic transmission, dopaminergic
response to amphetamine
heart morphogenesis
dopamine biosynthetic process from tyrosine
fatty acid metabolic process
sphingolipid metabolic process
heart development
visual perception
sensory perception of sound
learning
memory
mating behavior
locomotory behavior
regulation of heart contraction
response to water deprivation
response to light stimulus
response to herbicide
response to salt stress
anatomical structure morphogenesis
organ morphogenesis
response to zinc ion
multicellular organism aging
response to activity
aminergic neurotransmitter loading into synaptic vesicle
glycoside metabolic process
phthalate metabolic process
cerebral cortex development
response to nutrient levels
response to estradiol
response to lipopolysaccharide
isoquinoline alkaloid metabolic process
social behavior
cellular response to drug
response to isolation stress
response to immobilization stress
neurotransmitter biosynthetic process
terpene metabolic process
dopamine biosynthetic process
epinephrine biosynthetic process
norepinephrine biosynthetic process
catecholamine biosynthetic process
eye photoreceptor cell development
circadian sleep/wake cycle
eating behavior
response to peptide hormone
pigmentation
response to ethanol
response to ether
response to pyrethroid
embryonic camera-type eye morphogenesis
response to corticosterone
response to electrical stimulus
phytoalexin metabolic process
oxidation-reduction process
cellular response to manganese ion
cellular response to nicotine
cellular response to glucose stimulus
cellular response to growth factor stimulus

Function(s)

tyrosine 3-monooxygenase activity
protein binding
ferrous iron binding
ferric iron binding
amino acid binding
oxygen binding
enzyme binding
protein domain specific binding
tetrahydrobiopterin binding
dopamine binding