Hs04030501_cn

• Gene Symbol: RDH8
• Assay Reference Genome Location: Chr.19:10014222 on build GRCh38
• Cytoband: 19p13.2

Target Gene Details

• Entrez Gene ID: 50700
• Gene Name: retinol dehydrogenase 8 (all-trans)
• Gene Aliases: PRRDH, SDR28C2
• Location: Chr.19:10013249-10022278 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RDH8	NM_015725.2			NP_056540.2
	AF229845.1			AAF63160.1
	AK024022.1			BAB14782.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833742	Chr.19:9872203 - 10021301 on Build GRCh38	Loss	OLFM2 RDH8 COL5A3

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
estrogen biosynthetic process
visual perception
retinol metabolic process
response to stimulus
oxidation-reduction process

Function(s)

estradiol 17-beta-dehydrogenase activity
retinol dehydrogenase activity
NADP-retinol dehydrogenase activity