Product Details

SNP ID
rs200979751
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64388445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAGGCCATGGCGCCAGCAGAAAT[C/T]CTGAACGGGAAGGAGATCTCCGCGT
Phenotype
MIM: 172460
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MTHFD1 PubMed Links

Gene Details

Gene
MTHFD1
Gene Name
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005956.3 405 Silent Mutation ATC,ATT I6I NP_005947.3

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