Hs04472124_cn

• Gene Symbol: G6PC
• Assay Reference Genome Location: Chr.17:42904420 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 2538
• Gene Name: glucose-6-phosphatase catalytic subunit
• Gene Aliases: G6PC1, G6PT, G6Pase, GSD1, GSD1a
• Location: Chr.17:42900797-42914433 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
G6PC	NM_000151.3			NP_000142.2
	NM_001270397.1			NP_001257326.1
	AK303771.1
	AK313982.1
	BC130478.1
	BC136369.1
	U01120.1			AAA16222.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2763170	Chr.17:42896968 - 42943614 on Build GRCh38	Loss	LINC00671 G6PC
nsv483009	Chr.17:42829470 - 43006887 on Build GRCh38	Gain	AOC4P RUNDC1 AOC3 IFI35 LINC00671 RPL27 AOC2 AARSD1 PTGES3L PSME3 G6PC PTGES3L-AARSD1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

glycogen metabolic process
glycogen catabolic process
gluconeogenesis
triglyceride metabolic process
steroid metabolic process
regulation of gene expression
glucose transport
glucose-6-phosphate transport
response to food
multicellular organism growth
glucose homeostasis
cholesterol homeostasis
urate metabolic process
phosphorylated carbohydrate dephosphorylation
glucose 6-phosphate metabolic process

Function(s)

glucose-6-phosphatase activity
phosphotransferase activity, alcohol group as acceptor
phosphate ion binding