Hs00746056_cn

• Gene Symbol: MTHFR
• Assay Reference Genome Location: Chr.1:11795295 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: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTHFR	NM_005957.4	6	1063	NP_005948.3
	XM_005263458.3	6	1900	XP_005263515.1
	XM_005263460.4	6	1518	XP_005263517.1
	XM_005263462.4	6	951	XP_005263519.1
	XM_005263463.3	6	1080	XP_005263520.1
	XM_011541495.2	6	1897	XP_011539797.1
	XM_011541496.2	6	1900	XP_011539798.1
	XM_017001328.1	6	1900	XP_016856817.1
	AB209113.1	5	1101	BAD92350.1
	AJ237672.1	5	963	CAB41971.1
	AK312907.1	6	924
	BC053509.1	6	885	AAH53509.1
	CN355286.1	2	196
	JQ429447.1	2	339

More Information

• Set Membership: Intragenic, Exonic, non-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