Hs00362228_cn

• Gene Symbol: GALK1
• Assay Reference Genome Location: Chr.17:75758364 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 2584
• Gene Name: galactokinase 1
• Gene Aliases: GALK, GK1, HEL-S-19
• Location: Chr.17:75757937-75765199 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALK1	NM_000154.1			NP_000145.1
	AK303832.1
	AK314890.1
	BC001166.1			AAH01166.1
	BT007005.1			AAP35651.1
	EU794610.1
	U26401.1			AAA96147.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833544	Chr.17:75595541 - 75771639 on Build GRCh38	Loss	GALK1 SMIM6 MYO15B SAP30BP RECQL5 ITGB4 SMIM5
nsv470606	Chr.17:75750289 - 75848667 on Build GRCh38	Loss	GALK1 H3F3B LOC100507191 UNK UNC13D MIR4738 ITGB4 WBP2
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	MIR6785 TMEM94 LLGL2 GALK1 SMIM6 MYO15B TSEN54 SAP30BP RECQL5 ITGB4 SMIM5 CASKIN2
nsv833545	Chr.17:75738140 - 75945931 on Build GRCh38	Gain	TRIM65 ACOX1 GALK1 H3F3B LOC100507191 UNK UNC13D WBP2 FBF1 TRIM47 MRPL38 MIR4738 ITGB4

More Information

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

Panther Classification:

Molecular Function -

carbohydrate kinase

Gene Ontology Categories:

Process(es)

galactose metabolic process
galactose catabolic process
galactitol metabolic process
carbohydrate phosphorylation
glycolytic process from galactose

Function(s)

galactokinase activity
ATP binding
galactose binding