Hs00044644_cn

• Gene Symbol: GALC
• Assay Reference Genome Location: Chr.14:87934296 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: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALC	NM_000153.3	17	2601	NP_000144.2
	NM_001201401.1	16	2532	NP_001188330.1
	NM_001201402.1	17	2582	NP_001188331.1
	XM_011536618.2	17	2883	XP_011534920.1
	AK302519.1
	AK302683.1
	BC036518.2	17	2453	AAH36518.1
	D25283.1	17	2484	BAA04971.1
	L23116.1	17	2493	AAA16645.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2665905	Chr.14:87925147 - 87956869 on Build GRCh38	Deletion	GALC
nsv514759	Chr.14:87933687 - 87948247 on Build GRCh38	Gain+Loss	GALC
esv2760008	Chr.14:87924772 - 87963950 on Build GRCh38	Loss	GALC
nsv565506	Chr.14:87928587 - 87948259 on Build GRCh38	Loss	GALC
nsv1047065	Chr.14:87923196 - 87956225 on Build GRCh38	Loss	GALC
esv2761850	Chr.14:87932027 - 87953014 on Build GRCh38	Loss	GALC
dgv1954n100	Chr.14:87932015 - 87956225 on Build GRCh38	Loss	GALC
dgv672e212	Chr.14:87932014 - 87960402 on Build GRCh38	Loss	GALC
esv3635268	Chr.14:87925163 - 87956836 on Build GRCh38	Loss	GALC
dgv3840n54	Chr.14:87923791 - 87961245 on Build GRCh38	Loss	GALC
esv3635266	Chr.14:87833153 - 87954098 on Build GRCh38	Loss	GALC

More Information

• Set Membership: Intragenic, 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