Hs06523177_cn

• Gene Symbol: H6PD
• Assay Reference Genome Location: Chr.1:9234937 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
H6PD	NM_004285.3	1	134	NP_004276.2
	XM_006711052.3	1	171	XP_006711115.1
	AJ012590.1	1	134	CAA10071.1
	BC081559.1	1	164	AAH81559.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832092	Chr.1:9126509 - 9304543 on Build GRCh38	Loss	MIR34A MIR34AHG SPSB1 LOC102724571 GPR157 H6PD
nsv1143434	Chr.1:9234741 - 9235141 on Build GRCh38	Deletion	H6PD

More Information

• 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