Hs01534396_cn

• Gene Symbol: GALM
• Assay Reference Genome Location: Chr.2:38666151 on build GRCh38
• Cytoband: 2p22.1

Target Gene Details

• Entrez Gene ID: 130589
• Gene Name: galactose mutarotase
• Gene Aliases: BLOCK25, GLAT, HEL-S-63p, IBD1
• Location: Chr.2:38665910-38734767 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALM	NM_138801.2	1	242	NP_620156.1
	XM_011532540.1	1	242	XP_011530842.1
	AK291489.1
	BC014916.1			AAH14916.1
	BC019263.1			AAH19263.1
	DA984992.1	1	242
	EU794611.1
	U11036.1			AAA67652.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3590419	Chr.2:38660017 - 38726534 on Build GRCh38	Loss	GALM
nsv581485	Chr.2:38612181 - 38666518 on Build GRCh38	Gain	GALM
nsv9646	Chr.2:38131169 - 38855047 on Build GRCh38	Loss	HNRNPLL DHX57 GEMIN6 CYP1B1-AS1 LOC101929596 GALM SRSF7 ATL2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

epimerase/racemase

Gene Ontology Categories:

Process(es)

glucose metabolic process
galactose metabolic process

Function(s)

aldose 1-epimerase activity
carbohydrate binding