Hs03421163_cn

• Gene Symbol: GALM
• Assay Reference Genome Location: Chr.2:38675437 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALM	NM_138801.2			NP_620156.1
	XM_011532540.1			XP_011530842.1
	AK291489.1
	BC014916.1			AAH14916.1
	BC019263.1			AAH19263.1
	DA984992.1
	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
esv3891860	Chr.2:38666518 - 38724524 on Build GRCh38	Loss	GALM
nsv9646	Chr.2:38131169 - 38855047 on Build GRCh38	Loss	DHX57 GALM LOC101929596 GEMIN6 SRSF7 ATL2 CYP1B1-AS1 HNRNPLL

More Information

Additional Information:

For this assay, SNP(s) [rs67145759] 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 -

epimerase/racemase

Gene Ontology Categories:

Process(es)

glucose metabolic process
galactose metabolic process

Function(s)

aldose 1-epimerase activity
carbohydrate binding