Hs00481631_cn

• Gene Symbol: MTHFR
• Assay Reference Genome Location: Chr.1:11790258 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 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTHFR	NM_005957.4	12	2622	NP_005948.3
	XM_005263458.3	12	3459	XP_005263515.1
	XM_005263460.4	12	3077	XP_005263517.1
	XM_005263462.4	12	2510	XP_005263519.1
	XM_005263463.3	12	2639	XP_005263520.1
	XM_011541495.2	12	3456	XP_011539797.1
	XM_011541496.2	12	3277	XP_011539798.1
	AB209113.1			BAD92350.1
	BC053509.1	12	2444	AAH53509.1

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