Hs01078738_cn

• Gene Symbol: DBH
• Assay Reference Genome Location: Chr.9:133657217 on build GRCh38
• Cytoband: 9q34.2

Target Gene Details

• Entrez Gene ID: 1621
• Gene Name: dopamine beta-hydroxylase
• Gene Aliases: DBM
• Location: Chr.9:133636363-133659344 on Build GRCh38
• Assay Gene Location: Overlaps Exon 11 - Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBH	NM_000787.3			NP_000778.3
	BC017174.2			AAH17174.1
	CD014125.1
	X13255.1			CAA31631.1
	X13256.1			CAA31632.1
	Y00096.1			CAA68285.1

Target Gene Details

• Entrez Gene ID: 138948
• Gene Name: DBH antisense RNA 1
• Gene Aliases: NCRNA00118
• Location: Chr.9:133654587-133657408 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBH-AS1	NR_102735.1	1	192
	AF129263.1	1	270
	AF129264.1	1	97

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	DBH CELP LOC401557 MIR3689D1 SNORD36A MIR3689A CACFD1 LINC00094 MIR3689B REXO4 SNORD36B COL5A1-AS1 FCN1 C9orf62 SNORD24 COL5A1 ABO SURF2 LOC100996574 ADAMTS13 MIR3689E TSC1 LOC101928525 SNORD141A PPP1R26-AS1 GFI1B MRPS2 SLC2A6 WDR5 TMEM8C BRD3 LCN1 SPACA9 SARDH RALGDS FCN2 GBGT1 MIR548AW CEL RXRA DBH-AS1 MIR3689F FAM163B MED22 SURF4 AK8 RPL7A LOC101928193 MIR3689D2 MIR4669 MIR3689C OBP2B PPP1R26 STKLD1 LOC100130548 ADAMTSL2 RNU6ATAC C9orf116 SURF6 GTF3C5 SNORD36C OLFM1 SURF1 VAV2 LOC101448202 LOC105376306 MIR6877
nsv615640	Chr.9:133650175 - 133663599 on Build GRCh38	Loss	DBH SARDH DBH-AS1
nsv951800	Chr.9:133627979 - 133696678 on Build GRCh38	Deletion	DBH SARDH DBH-AS1
esv3576711	Chr.9:133582804 - 133778331 on Build GRCh38	Gain	DBH SARDH DBH-AS1 VAV2 FAM163B

More Information

Additional Information:

For this assay, SNP(s) [rs74643874] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

hydroxylase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

cytokine production
blood vessel remodeling
response to amphetamine
leukocyte mediated immunity
chemical synaptic transmission
memory
locomotory behavior
visual learning
regulation of cell proliferation
homoiothermy
dopamine catabolic process
norepinephrine biosynthetic process
catecholamine biosynthetic process
glucose homeostasis
fear response
maternal behavior
positive regulation of vasoconstriction
behavioral response to ethanol
response to pain
leukocyte migration
oxidation-reduction process
regulation of extrinsic apoptotic signaling pathway

Function(s)

catalytic activity
dopamine beta-monooxygenase activity
copper ion binding
L-ascorbic acid binding