Hs04854804_cn

• Gene Symbol: QDPR
• Assay Reference Genome Location: Chr.4:17492588 on build GRCh38
• Cytoband: 4p15.32

Target Gene Details

• Entrez Gene ID: 5860
• Gene Name: quinoid dihydropteridine reductase
• Gene Aliases: DHPR, PKU2, SDR33C1
• Location: Chr.4:17486393-17512234 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
QDPR	NM_000320.2			NP_000311.2
	NM_001306140.1			NP_001293069.1
	AK124382.1
	AK223437.1			BAD97157.1
	AK289773.1
	AK296622.1
	BC000576.2			AAH00576.1
	BM762805.1
	M16447.1			AAA52305.1
	X04882.1			CAA28571.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1003127	Chr.4:17454748 - 17540540 on Build GRCh38	Gain	QDPR CLRN2
nsv593781	Chr.4:17030351 - 17591490 on Build GRCh38	Gain	QDPR LAP3 CLRN2 LOC101929123

More Information

Additional Information:

For this assay, SNP(s) [rs73234956] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, reductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

liver development
cellular amino acid metabolic process
L-phenylalanine catabolic process
tetrahydrobiopterin biosynthetic process
response to aluminum ion
response to lead ion
response to glucagon
cellular response to drug
dihydrobiopterin metabolic process
oxidation-reduction process

Function(s)

6,7-dihydropteridine reductase activity
electron carrier activity
protein homodimerization activity
NADPH binding
NADH binding