Hs05727486_cn

• Gene Symbol: DHRS3
• Assay Reference Genome Location: Chr.1:12586965 on build GRCh38
• Cytoband: 1p36.21

Target Gene Details

• Entrez Gene ID: 9249
• Gene Name: dehydrogenase/reductase 3
• Gene Aliases: DD83.1, RDH17, Rsdr1, SDR1, SDR16C1, retSDR1
• Location: Chr.1:12567910-12618361 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHRS3	NM_001319225.1			NP_001306154.1
	NM_001324370.1			NP_001311299.1
	NM_004753.6			NP_004744.2
	XM_006711036.1			XP_006711099.1
	XM_017002809.1			XP_016858298.1
	AF061741.1			AAC63263.1
	AK222593.1			BAD96313.1
	AK225057.1
	AK309282.1
	AK310202.1
	AK312961.1
	AY358093.1			AAQ88460.1
	BC002730.2			AAH02730.1
	BX648476.1			CAI46033.1
	DQ426869.1
	DQ426870.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521737	Chr.1:12539396 - 12624831 on Build GRCh38	Loss	MIR6730 DHRS3
nsv545443	Chr.1:12565072 - 12624831 on Build GRCh38	Gain	MIR6730 DHRS3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

retinoid metabolic process
outflow tract morphogenesis
visual perception
regulation of ossification
retinol metabolic process
negative regulation of retinoic acid receptor signaling pathway
oxidation-reduction process
palate development
bone morphogenesis
cardiac septum morphogenesis

Function(s)

nucleotide binding
retinol dehydrogenase activity
electron carrier activity
NADP-retinol dehydrogenase activity