Hs01588245_cn

• Gene Symbol: PHKA1
• Assay Reference Genome Location: Chr.X:72605399 on build GRCh38
• Cytoband: Xq13.1

Target Gene Details

• Entrez Gene ID: 5255
• Gene Name: phosphorylase kinase regulatory subunit alpha 1
• Gene Aliases: PHKA
• Location: Chr.X:72578814-72714181 on Build GRCh38
• Assay Gene Location: Overlaps Intron 24 - Exon 25

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHKA1	NM_001122670.1			NP_001116142.1
	NM_001172436.1			NP_001165907.1
	NM_002637.3			NP_002628.2
	XM_006724661.2			XP_006724724.1
	BC104944.1			AAI04945.1
	BC143499.1
	BC143501.1
	X73874.1			CAA52083.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2663199	Chr.X:72589543 - 72671051 on Build GRCh38	Deletion	PHKA1

More Information

• Set Membership: Intragenic, 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 autophosphorylation

Function(s)

phosphorylase kinase activity
calmodulin binding