Hs05767674_cn

• Gene Symbol: H6PD
• Assay Reference Genome Location: Chr.1:9237786 on build GRCh38
• Cytoband: 1p36.22

Target Gene Details

• Entrez Gene ID: 9563
• Gene Name: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
• Gene Aliases: CORTRD1, G6PDH, GDH
• Location: Chr.1:9234767-9271337 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
H6PD	NM_004285.3			NP_004276.2
	XM_006711052.3			XP_006711115.1
	XM_017002865.1	1	322	XP_016858354.1
	AJ012590.1			CAA10071.1
	BC081559.1			AAH81559.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv16n100	Chr.1:9237601 - 9351410 on Build GRCh38	Gain	SPSB1 H6PD
nsv832092	Chr.1:9126509 - 9304543 on Build GRCh38	Loss	LOC102724571 SPSB1 H6PD MIR34AHG MIR34A GPR157

More Information

Additional Information:

For this assay, SNP(s) [rs114927705] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

glucose metabolic process
pentose-phosphate shunt
oxidation-reduction process

Function(s)

glucose-6-phosphate dehydrogenase activity
6-phosphogluconolactonase activity
glucose 1-dehydrogenase [NAD(P)] activity
NADP binding