Hs03925316_cn

• Gene Symbol: PHKB
• Assay Reference Genome Location: Chr.16:47480168 on build GRCh38
• Cytoband: 16q12.1

Target Gene Details

• Entrez Gene ID: 5257
• Gene Name: phosphorylase kinase regulatory subunit beta
• Gene Aliases: -
• Location: Chr.16:47461131-47701523 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHKB	NM_000293.2			NP_000284.1
	NM_001031835.2			NP_001027005.1
	XM_005255983.4			XP_005256040.1
	XM_005255984.4			XP_005256041.1
	XM_017023283.1			XP_016878772.1
	XM_017023284.1			XP_016878773.1
	AK309226.1
	BC033657.1			AAH33657.1
	CR936710.1
	X84908.1			CAA59332.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758644	Chr.16:47227601 - 47572376 on Build GRCh38	Gain	PHKB ITFG1
esv34317	Chr.16:47356689 - 47638568 on Build GRCh38	Gain	PHKB ITFG1
dgv518e214	Chr.16:47223909 - 47493062 on Build GRCh38	Loss	PHKB ITFG1
nsv572537	Chr.16:47377292 - 47565591 on Build GRCh38	Loss	PHKB ITFG1
esv3638553	Chr.16:47263433 - 47493062 on Build GRCh38	Gain	PHKB ITFG1
esv3638561	Chr.16:47463995 - 47559918 on Build GRCh38	Gain	PHKB
nsv520355	Chr.16:47390917 - 48130866 on Build GRCh38	Gain	ABCC12 LOC100507534 PHKB LOC101927132 ITFG1
nsv833217	Chr.16:47324237 - 47493744 on Build GRCh38	Gain	PHKB ITFG1

More Information

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

Panther Classification:

Molecular Function -

kinase activator

Gene Ontology Categories:

Process(es)

glycogen metabolic process
glycogen catabolic process
generation of precursor metabolites and energy
protein phosphorylation

Function(s)

phosphorylase kinase activity
protein binding
calmodulin binding