Hs04459603_cn

• Gene Symbol: GCSH
• Assay Reference Genome Location: Chr.16:81090632 on build GRCh38
• Cytoband: 16q23.2

Target Gene Details

• Entrez Gene ID: 2653
• Gene Name: glycine cleavage system protein H
• Gene Aliases: GCE, NKH
• Location: Chr.16:81081947-81096375 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GCSH	NM_004483.4			NP_004474.2
	NR_033249.1
	XM_017023136.1			XP_016878625.1
	XM_017023137.1			XP_016878626.1
	AK311978.1
	AV696698.1
	BF798008.1
	BG708388.1
	BT009827.1			AAP88829.1
	CN283805.1
	CN283809.1
	CR457072.1			CAG33353.1
	M69175.1			AAA36011.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2751615	Chr.16:81059494 - 81273994 on Build GRCh38	Gain	C16orf46 BCO1 PKD1L2 GCSH
nsv1062724	Chr.16:81018707 - 81103402 on Build GRCh38	Gain	ATMIN C16orf46 PKD1L2 CENPN GCSH
esv2422360	Chr.16:81032428 - 81147122 on Build GRCh38	Duplication	ATMIN C16orf46 PKD1L2 CENPN GCSH

More Information

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

Gene Ontology Categories:

Process(es)

glycine catabolic process
glycine decarboxylation via glycine cleavage system
methylation
glyoxylate metabolic process

Function(s)

aminomethyltransferase activity