Hs00331384_cn

• Gene Symbol: MTHFR
• Assay Reference Genome Location: Chr.1:11803045 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTHFR	NM_005957.4	2	301	NP_005948.3
	XM_005263458.3	2	1138	XP_005263515.1
	XM_005263460.4	2	756	XP_005263517.1
	XM_005263462.4	2	189	XP_005263519.1
	XM_005263463.3	2	301	XP_005263520.1
	XM_011541495.2	2	1135	XP_011539797.1
	XM_011541496.2	2	1138	XP_011539798.1
	XM_017001328.1	2	1138	XP_016856817.1
	AB209113.1	1	339	BAD92350.1
	AJ237672.1	1	201	CAB41971.1
	AK312907.1	2	162
	AY046560.1			AAL17646.1
	AY046561.1			AAL17647.1
	AY046562.1			AAL17648.1
	AY046563.1			AAL17649.1
	AY046564.1			AAL17650.1
	AY046565.1			AAL17651.1
	BC053509.1	2	123	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