Hs00809550_cn

• Gene Symbol: RDH13
• Assay Reference Genome Location: Chr.19:55059286 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: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RDH13	NM_001145971.1			NP_001139443.1
	NM_138412.3			NP_612421.1
	NR_027381.1
	NR_027382.1
	XM_005258473.1			XP_005258530.1
	XM_011526407.1			XP_011524709.1
	XM_011526408.2			XP_011524710.1
	AK075392.1			BAC11591.1
	AK122764.1
	AK291579.1
	AY358473.1			AAQ88837.1
	BC009881.2			AAH09881.1
	DB273341.1
	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 MIR7975 PPP1R12C TNNT1 RDH13 GP6
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR2DL1 LILRB1 KIR3DL1 LOC101928804 NCR1 KIR3DL2 LILRA1 NLRP7 LILRP2 FCAR LAIR2 GP6 MIR8061 KIR3DL3 NLRP2 LILRA2 CDC42EP5 PPP1R12C KIR3DX1 LILRB4 KIR2DL4 EPS8L1 KIR2DS4 LOC102724300 RDH13 KIR2DL3
esv2763211	Chr.19:55036566 - 55063539 on Build GRCh38	Gain	RDH13 GP6
esv2758772	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	EPS8L1 MIR7975 PPP1R12C TNNT1 RDH13 GP6
nsv833880	Chr.19:54889952 - 55067343 on Build GRCh38	Loss	NLRP2 NLRP7 FCAR RDH13 GP6 NCR1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR2DL1 LILRB1 KIR3DL1 LOC101928804 NCR1 KIR3DL2 LILRA1 NLRP7 LILRP2 FCAR LAIR2 GP6 MIR8061 KIR3DL3 NLRP2 LILRA2 CDC42EP5 PPP1R12C KIR3DX1 LILRB4 KIR2DL4 EPS8L1 KIR2DS4 LOC102724300 RDH13 KIR2DL3

More Information

Additional Information:

For this assay, SNP(s) [rs114180071] 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, 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