Hs00641641_cn

• Gene Symbol: MTHFR
• Assay Reference Genome Location: Chr.1:11800218 on build GRCh38
• Cytoband: 1p36.22

Target Gene Details

• Entrez Gene ID: 4524
• Gene Name: methylenetetrahydrofolate reductase (NAD(P)H)
• Gene Aliases: -
• Location: Chr.1:11785730-11806103 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTHFR	NM_005957.4			NP_005948.3
	XM_005263458.3			XP_005263515.1
	XM_005263460.4			XP_005263517.1
	XM_005263462.4			XP_005263519.1
	XM_005263463.3			XP_005263520.1
	XM_011541495.2			XP_011539797.1
	XM_011541496.2			XP_011539798.1
	XM_017001328.1			XP_016856817.1
	AB209113.1			BAD92350.1
	AJ237672.1			CAB41971.1
	AK312907.1
	BC053509.1			AAH53509.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518652	Chr.1:11797654 - 11802721 on Build GRCh38	Loss	MTHFR

More Information

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

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

response to hypoxia
cellular amino acid metabolic process
methionine metabolic process
blood circulation
regulation of histone methylation
response to vitamin B2
tetrahydrofolate interconversion
response to drug
response to amino acid
S-adenosylmethionine metabolic process
folic acid metabolic process
homocysteine metabolic process
response to folic acid
oxidation-reduction process
response to interleukin-1
heterochromatin maintenance

Function(s)

methylenetetrahydrofolate reductase (NAD(P)H) activity
protein complex binding
flavin adenine dinucleotide binding
NADP binding
modified amino acid binding