Hs07536348_cn

• Gene Symbol: GALK2
• Assay Reference Genome Location: Chr.15:49254348 on build GRCh38
• Cytoband: 15q21.2

Target Gene Details

• Entrez Gene ID: 2585
• Gene Name: galactokinase 2
• Gene Aliases: GK2
• Location: Chr.15:49155757-49367883 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALK2	NM_001001556.2			NP_001001556.1
	NM_001289030.1			NP_001275959.1
	NM_001289031.1			NP_001275960.1
	NM_002044.3			NP_002035.1
	XM_005254279.3			XP_005254336.1
	XM_005254280.3			XP_005254337.1
	XM_005254284.3			XP_005254341.1
	XM_006720461.3			XP_006720524.1
	XM_006720462.3			XP_006720525.1
	XM_006720463.3			XP_006720526.1
	XM_006720464.3			XP_006720527.1
	XM_011521441.2			XP_011519743.1
	XM_017022062.1			XP_016877551.1
	XM_017022063.1			XP_016877552.1
	XM_017022064.1			XP_016877553.1
	XM_017022065.1			XP_016877554.1
	XM_017022066.1			XP_016877555.1
	AF461816.1			AAP97708.1
	AK098049.1
	AK301361.1
	AK316440.1
	AL832745.1
	BC005141.2			AAH05141.1
	BI766538.1
	BQ921903.1
	BT006901.1			AAP35547.1
	EB386877.1
	M84443.1			AAA58612.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4523n54	Chr.15:49253235 - 49255076 on Build GRCh38	Loss	GALK2
esv2672599	Chr.15:49252666 - 49255657 on Build GRCh38	Deletion	GALK2
esv3636423	Chr.15:49208792 - 49259459 on Build GRCh38	Loss	GALK2
esv3636424	Chr.15:49252669 - 49255670 on Build GRCh38	Loss	GALK2
dgv4516n54	Chr.15:49242505 - 49257746 on Build GRCh38	Loss	GALK2
nsv569342	Chr.15:49237105 - 49257746 on Build GRCh38	Gain	GALK2
nsv569389	Chr.15:49254066 - 49255593 on Build GRCh38	Gain+Loss	GALK2
esv22168	Chr.15:49252579 - 49255674 on Build GRCh38	Loss	GALK2
dgv4522n54	Chr.15:49252995 - 49257746 on Build GRCh38	Loss	GALK2
dgv4518n54	Chr.15:49252812 - 49254486 on Build GRCh38	Loss	GALK2
esv3552423	Chr.15:49252607 - 49255864 on Build GRCh38	Deletion	GALK2
esv2749671	Chr.15:49252661 - 49255685 on Build GRCh38	Deletion	GALK2
nsv569354	Chr.15:49248019 - 49257746 on Build GRCh38	Loss	GALK2

More Information

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

Panther Classification:

Molecular Function -

carbohydrate kinase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
galactose metabolic process
carbohydrate phosphorylation

Function(s)

galactokinase activity
ATP binding
N-acetylgalactosamine kinase activity