Hs04022636_cn

• Gene Symbol: RDH13
• Assay Reference Genome Location: Chr.19:55064001 on build GRCh38
• Cytoband: 19q13.42

Target Gene Details

• Entrez Gene ID: 112724
• Gene Name: retinol dehydrogenase 13 (all-trans/9-cis)
• Gene Aliases: SDR7C3
• Location: Chr.19:55038895-55069774 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RDH13	NM_138412.3			NP_612421.1
	XM_005258473.1			XP_005258530.1
	XM_011526407.1			XP_011524709.1
	BC009881.2			AAH09881.1
	DB218166.1
	DN996530.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	EPS8L1 PPP1R12C GP6 TNNT1 MIR7975 RDH13
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR3DL2 KIR3DL3 PPP1R12C LILRP2 KIR3DL1 LILRB4 RDH13 CDC42EP5 NLRP2 NCR1 MIR8061 EPS8L1 KIR2DL3 KIR2DS4 KIR2DL4 LILRA1 NLRP7 LAIR2 LOC101928804 KIR3DX1 LOC102724300 LILRA2 KIR2DL1 LILRB1 FCAR GP6
esv2758772	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	EPS8L1 PPP1R12C GP6 TNNT1 MIR7975 RDH13
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	NLRP2 NCR1 FCAR NLRP7 GP6 RDH13
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR3DL2 KIR3DL3 PPP1R12C LILRP2 KIR3DL1 LILRB4 RDH13 CDC42EP5 NLRP2 NCR1 MIR8061 EPS8L1 KIR2DL3 KIR2DS4 KIR2DL4 LILRA1 NLRP7 LAIR2 LOC101928804 KIR3DX1 LOC102724300 LILRA2 KIR2DL1 LILRB1 FCAR GP6

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

response to high light intensity
retina layer formation
eye photoreceptor cell development
retinol metabolic process
oxidation-reduction process

Function(s)

oxidoreductase activity
NADP-retinol dehydrogenase activity