Hs01209637_cn

• Gene Symbol: H6PD
• Assay Reference Genome Location: Chr.1:9245035 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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
H6PD	NM_001282587.1	2	286	NP_001269516.1
	NM_004285.3	2	374	NP_004276.2
	XM_005263540.4	2	3050	XP_005263597.1
	XM_006711052.3	2	403	XP_006711115.1
	XM_017002865.1	2	2657	XP_016858354.1
	AJ012590.1	2	373	CAA10071.1
	BC081559.1	2	404	AAH81559.1
	CR749282.1	2	286	CAH18137.1

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	SPSB1 MIR34AHG MIR34A LOC102724571 GPR157 H6PD
dgv12e212	Chr.1:9243684 - 9344908 on Build GRCh38	Gain	SPSB1 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