Hs02204095_cn

• Gene Symbol: AMT
• Assay Reference Genome Location: Chr.3:49422153 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 275
• Gene Name: aminomethyltransferase
• Gene Aliases: GCE, GCST, GCVT, NKH
• Location: Chr.3:49416778-49422678 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMT	NM_000481.3	2	437	NP_000472.2
	NM_001164710.1	2	437	NP_001158182.1
	NM_001164711.1			NP_001158183.1
	NM_001164712.1	2	437	NP_001158184.1
	NR_028435.1	2	423
	AK091738.1	2	226
	AK096062.1	2	274
	AK290600.1	2	217
	AK293481.1
	AK293594.1	1	299
	AK294592.1
	AK296177.1	2	228
	AK301072.1	2	203
	BC007546.1	2	201	AAH07546.2
	D13811.1	2	338	BAA02967.1
	DC387800.1	2	437

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834687	Chr.3:49411199 - 49594355 on Build GRCh38	Loss	TCTA DAG1 AMT BSN-AS2 NICN1 RHOA BSN

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

methyltransferase

Gene Ontology Categories:

Process(es)

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

Function(s)

aminomethyltransferase activity
transaminase activity