Hs03957813_cn

• Gene Symbol: GAA
• Assay Reference Genome Location: Chr.17:80103106 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 2548
• Gene Name: glucosidase alpha, acid
• Gene Aliases: LYAG
• Location: Chr.17:80101526-80119882 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GAA	NM_000152.4			NP_000143.2
	NM_001079803.2			NP_001073271.1
	NM_001079804.2			NP_001073272.1
	XM_005257193.2			XP_005257250.1
	XM_005257194.4			XP_005257251.1
	BC040431.1			AAH40431.1
	DC392486.1
	HY015584.1
	HY047261.1
	HY101855.1
	Y00839.1			CAA68763.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1066606	Chr.17:79955666 - 80224006 on Build GRCh38	Gain	SGSH EIF4A3 SLC26A11 MIR1268B TBC1D16 CARD14 CCDC40 GAA LOC105371920
nsv469591	Chr.17:80085322 - 80293486 on Build GRCh38	Loss	SGSH EIF4A3 SLC26A11 MIR1268B CARD14 CCDC40 GAA LOC105371920 RNF213
nsv833561	Chr.17:79977946 - 80167051 on Build GRCh38	Loss	EIF4A3 MIR1268B TBC1D16 CCDC40 GAA

More Information

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

Panther Classification:

Molecular Function -

glucosidase

Gene Ontology Categories:

Process(es)

maltose metabolic process
regulation of the force of heart contraction
diaphragm contraction
heart morphogenesis
glycogen catabolic process
sucrose metabolic process
glucose metabolic process
lysosome organization
locomotory behavior
tissue development
vacuolar sequestering
muscle cell cellular homeostasis
neuromuscular process controlling posture
neuromuscular process controlling balance
cardiac muscle contraction

Function(s)

alpha-1,4-glucosidase activity
oligo-1,6-glucosidase activity
carbohydrate binding
maltose alpha-glucosidase activity