Hs05362052_cn

• Gene Symbol: MTHFS
• Assay Reference Genome Location: Chr.15:79862470 on build GRCh38
• Cytoband: 15q25.1

Target Gene Details

• Entrez Gene ID: 10588
• Gene Name: 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
• Gene Aliases: HsT19268
• Location: Chr.15:79843547-79897285 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTHFS	NM_001199758.1			NP_001186687.1
	NM_006441.3			NP_006432.1
	NR_037654.1
	AL110101.1
	BC012417.1			AAH12417.1
	BC019921.1			AAH19921.1
	BM450865.1
	CB995322.1
	CK905549.1
	L38928.1			AAC41945.1

Target Gene Details

• Entrez Gene ID: 100528021
• Gene Name: ST20-MTHFS readthrough
• Gene Aliases: -
• Location: Chr.15:79843547-79923106 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ST20-MTHFS	NM_001199760.1			NP_001186689.1
	BG705061.1
	CK002935.1
	DB495490.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833065	Chr.15:79760661 - 79982480 on Build GRCh38	Loss	MTHFS ST20 ST20-MTHFS BCL2A1 ST20-AS1

More Information

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

Panther Classification:

Molecular Function -

ligase

Gene Ontology Categories:

Process(es)

glutamate metabolic process
folic acid-containing compound biosynthetic process
formate metabolic process
tetrahydrofolate interconversion
tetrahydrofolate metabolic process
folic acid metabolic process
folic acid catabolic process

Function(s)

ATP binding
folic acid binding
5-formyltetrahydrofolate cyclo-ligase activity
metal ion binding