Hs04211396_cn

• Gene Symbol: H6PD
• Assay Reference Genome Location: Chr.1:9260588 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 Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
H6PD	NM_001282587.1			NP_001269516.1
	NM_004285.3			NP_004276.2
	XM_005263540.4			XP_005263597.1
	XM_006711052.3			XP_006711115.1
	XM_017002865.1			XP_016858354.1
	XM_017002866.1			XP_016858355.1
	AJ012590.1			CAA10071.1
	BC081559.1			AAH81559.1
	CR749282.1			CAH18137.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv40e59	Chr.1:9257906 - 9261004 on Build GRCh38	Duplication	H6PD
dgv2e55	Chr.1:9255788 - 9344634 on Build GRCh38	Gain	H6PD SPSB1
nsv545350	Chr.1:9258342 - 9306793 on Build GRCh38	Gain	H6PD SPSB1
nsv1139468	Chr.1:9259141 - 9260941 on Build GRCh38	Duplication	H6PD
nsv1128586	Chr.1:9258241 - 9260741 on Build GRCh38	Duplication	H6PD
dgv97n54	Chr.1:9249687 - 9352728 on Build GRCh38	Gain	H6PD SPSB1
dgv12e212	Chr.1:9243684 - 9344908 on Build GRCh38	Gain	H6PD SPSB1
esv2763409	Chr.1:9247978 - 9344958 on Build GRCh38	Gain	H6PD SPSB1
esv3585168	Chr.1:9260085 - 9343720 on Build GRCh38	Gain	H6PD SPSB1
dgv16n100	Chr.1:9237601 - 9351410 on Build GRCh38	Gain	H6PD SPSB1
nsv1075364	Chr.1:9258040 - 9260741 on Build GRCh38	Duplication	H6PD
nsv832092	Chr.1:9126509 - 9304543 on Build GRCh38	Loss	H6PD MIR34AHG MIR34A GPR157 LOC102724571 SPSB1
esv23318	Chr.1:9257747 - 9261167 on Build GRCh38	Loss	H6PD

More Information

Additional Information:

For this assay, SNP(s) [rs184344364] 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 -

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