Product Details

SNP ID
rs685487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:79843787 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAGGGGACAGATATGACAACAAATA[A/G]TTTGATACGTAAGACAACATGATAA
Phenotype
MIM: 604197
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MTHFS PubMed Links

Gene Details

Gene
MTHFS
Gene Name
5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199758.1 2042 UTR 3 NP_001186687.1
NM_006441.3 2042 UTR 3 NP_006432.1
Gene
ST20-MTHFS
Gene Name
ST20-MTHFS readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199760.1 2042 UTR 3 NP_001186689.1

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