Hs04999087_cn

• Gene Symbol: BPGM
• Assay Reference Genome Location: Chr.7:134677290 on build GRCh38
• Cytoband: 7q33

Target Gene Details

• Entrez Gene ID: 669
• Gene Name: bisphosphoglycerate mutase
• Gene Aliases: DPGM
• Location: Chr.7:134646779-134679816 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BPGM	NM_001293085.1			NP_001280014.1
	NM_001724.4			NP_001715.1
	NM_199186.2			NP_954655.1
	XM_011516527.1			XP_011514829.1
	AK097778.1
	AK315439.1
	BC017050.1			AAH17050.1
	X04327.1			CAA27858.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762705	Chr.7:134667005 - 134694885 on Build GRCh38	Loss	BPGM

More Information

Additional Information:

For this assay, SNP(s) [rs138990312] 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 -

mutase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
glucose metabolic process
gluconeogenesis
glycolytic process
respiratory gaseous exchange
dephosphorylation
regulation of pentose-phosphate shunt

Function(s)

bisphosphoglycerate mutase activity
bisphosphoglycerate 2-phosphatase activity
2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity