MTR

Ensembl ID:
ENSDARG00000039134
Description:
5-methyltetrahydrofolate-homocysteine methyltransferase [Source:HGNC Symbol;Acc:7468]
Human Orthologue:
MTR
Human Description:
5-methyltetrahydrofolate-homocysteine methyltransferase [Source:HGNC Symbol;Acc:7468]
Mouse Orthologue:
Mtr
Mouse Description:
5-methyltetrahydrofolate-homocysteine methyltransferase Gene [Source:MGI Symbol;Acc:MGI:894292]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa6277 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa6277
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057161 Nonsense 919 1202 30 36
Genomic Location:
Chromosome 12 (position 48217086)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TACTTCGAGGAGGTCCAGGAAGAGTATGAAGACATTCGTCAGGATCACTA[T/A]GATTCGCTGAAGGTMTGAYGGTCACATGACCMACATWCACCCCACAGTGC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/2xeqokad