Hs00112363_cn

• Gene Symbol: GALC
• Assay Reference Genome Location: Chr.14:87963419 on build GRCh38
• Cytoband: 14q31.3

Target Gene Details

• Entrez Gene ID: 2581
• Gene Name: galactosylceramidase
• Gene Aliases: -
• Location: Chr.14:87933014-87993665 on Build GRCh38
• Assay Gene Location: Overlaps Intron 12 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALC	NM_000153.3			NP_000144.2
	NM_001201401.1			NP_001188330.1
	NM_001201402.1			NP_001188331.1
	XM_011536618.2			XP_011534920.1
	AK294040.1
	AK296530.1
	AK302519.1
	AK302683.1
	AK302956.1
	BC036518.2			AAH36518.1
	BU675449.1	1	121
	D25283.1			BAA04971.1
	D25284.1	10	1116	BAA04972.1
	DB366392.1	1	148
	L23116.1			AAA16645.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2760008	Chr.14:87924772 - 87963950 on Build GRCh38	Loss	GALC

More Information

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

Panther Classification:

Molecular Function -

galactosidase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
galactosylceramide catabolic process
glycosphingolipid metabolic process

Function(s)

galactosylceramidase activity