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
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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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, |