Hs02194870_cn

• Gene Symbol: FAM227B
• Assay Reference Genome Location: Chr.15:49329503 on build GRCh38
• Cytoband: 15q21.2

Target Gene Details

• Entrez Gene ID: 196951
• Gene Name: family with sequence similarity 227 member B
• Gene Aliases: C15orf33
• Location: Chr.15:49326997-49620931 on Build GRCh38
• Assay Gene Location: Within Intron 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM227B	NM_152647.2			NP_689860.2
	XM_005254213.3			XP_005254270.1
	XM_005254214.3			XP_005254271.1
	XM_005254215.3			XP_005254272.1
	XM_005254216.3			XP_005254273.1
	XM_005254219.3			XP_005254276.1
	XM_006720423.2			XP_006720486.1
	XM_006720424.2			XP_006720487.1
	XM_006720426.2			XP_006720489.1
	XM_006720427.3			XP_006720490.1
	XM_011521319.2			XP_011519621.1
	XM_011521320.1			XP_011519622.1
	XM_011521322.1			XP_011519624.1
	XM_017021990.1			XP_016877479.1
	XM_017021991.1			XP_016877480.1
	XM_017021992.1			XP_016877481.1
	XM_017021993.1			XP_016877482.1
	XM_017021994.1			XP_016877483.1
	XM_017021995.1			XP_016877484.1
	XM_017021996.1			XP_016877485.1
	AK023699.1
	AK057362.1			BAB71451.1
	BG182490.1

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 Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALK2	NM_001001556.2	10	2926	NP_001001556.1
	NM_001289030.1	11	3158	NP_001275959.1
	NM_001289031.1	10	3011	NP_001275960.1
	NM_002044.3	10	3028	NP_002035.1
	XM_005254279.3			XP_005254336.1
	XM_005254280.3			XP_005254337.1
	XM_005254284.3			XP_005254341.1
	XM_006720461.3	11	2282	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	9	2699	XP_016877551.1
	XM_017022063.1			XP_016877552.1
	XM_017022064.1			XP_016877553.1
	XM_017022065.1	12	2538	XP_016877554.1
	XM_017022066.1	12	2559	XP_016877555.1
	BX455251.2	1	298
	CA841825.1	1	303

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833002	Chr.15:49329203 - 49489602 on Build GRCh38	Gain	FGF7 FAM227B GALK2
esv3581695	Chr.15:49319432 - 49331028 on Build GRCh38	Loss	FAM227B GALK2

More Information

• Set Membership: Intragenic, Exonic, 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