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SNP ID: rs10519253
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:79844120 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TTGTATACAACAGAAGCCATCTGTT[A/T]GCTACCCAAGAGGCTCTGAACAGCC
Phenotype: MIM: 604197
Polymorphism: A/T, Transversion 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	1709	UTR 3			NP_001186687.1
NM_006441.3	1709	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	1709	UTR 3			NP_001186689.1

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