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SNP ID: rs150369977
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:79845439 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCTGGCATGAAGATGAGATCAAGT[C/T]CCCCTGCGGAAAAGAGGAACAAATT
Phenotype: MIM: 604197
Polymorphism: C/T, 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	390	Missense Mutation	GAA,GGA	E71G	NP_001186687.1
NM_006441.3	390	Missense Mutation	GAA,GGA	E128G	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	390	Missense Mutation	GAA,GGA	E104G	NP_001186689.1

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