Description

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

Location
INSDC coordinates

chromosome:GRCh38:CM000663.2:11785723:11806920:1

About this gene

This gene has 9 transcripts (splice variants), 66 orthologues, is a member of 3 Ensembl protein families and is associated with 20 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MTHFR-001ENST000003765927057656aaENSP00000365777
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS137P42898 -TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
MTHFR-002ENST000003765906232656aaENSP00000365775
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS137P42898 NM_005957
NP_005948
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
MTHFR-201ENST000003765837044697aaENSP00000365767
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-P42898 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
MTHFR-007ENST000003765855532697aaENSP00000365770
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-P42898 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
MTHFR-005ENST00000423400153953aaENSP00000398908
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q5SNW7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

MTHFR-003ENST00000376486113530aaENSP00000365669
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q8IU67 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

MTHFR-004ENST000004180341034143aaENSP00000405082
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q5SNW5 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

MTHFR-006ENST0000043124387030aaENSP00000400460
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q8IU67 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

MTHFR-008ENST0000041365639830aaENSP00000408307
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q8IU67 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays