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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: MTHFR ENSG00000177000

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Description

methylenetetrahydrofolate reductase (NAD(P)H) [Source:HGNC Symbol;Acc:7436]

Location

Chromosome 1: 11,845,780-11,866,977 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 9 transcripts (splice variants) and is associated with 22 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000376592.1	MTHFR-001	7057	656aa	ENSP00000365777.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS137	L7P8G6 P42898 Q5SNW5 Q8IU67 Q9NY63	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000376583.3	MTHFR-201	7021	697aa	ENSP00000365767.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		L7P8G6 Q5SNW5 Q5SNW6 Q8IU67 Q8IU73 Q9NY63	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000376590.3	MTHFR-002	6232	656aa	ENSP00000365775.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS137	L7P8G6 P42898 Q5SNW5 Q8IU67 Q9NY63	NM_005957.4	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000376585.1	MTHFR-007	5532	697aa	ENSP00000365770.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		L7P8G6 Q5SNW5 Q5SNW6 Q8IU67 Q8IU73 Q9NY63	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000423400.1	MTHFR-005	1539	52aa	ENSP00000398908.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5SNW7 Q8IU67	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000376486.2	MTHFR-003	1135	29aa	ENSP00000365669.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q8IU67	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000418034.1	MTHFR-004	1034	143aa	ENSP00000405082.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5SNW5 Q8IU67 Q9NY63	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000431243.1	MTHFR-006	870	29aa	ENSP00000400460.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q8IU67	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000413656.1	MTHFR-008	398	29aa	ENSP00000408307.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q8IU67	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

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Summary

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