Product Details

SNP ID

rs36081793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74222931 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTTTCCATGGGAATCTTTATAA[C/T]CGAGGGAGGAGGGAACTGGGGCTGG

Phenotype

MIM: 604887 MIM: 606757

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MTHFD2 PubMed Links

Gene Details

Gene

MTHFD2

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase

There are no transcripts associated with this gene.

Gene

SLC4A5

Gene Name

solute carrier family 4 member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021196.3	3666	Missense Mutation	ATT,GTT	I1106V	NP_067019.3
NM_133478.2	3666	Missense Mutation	ATT,GTT	I1090V	NP_597812.1

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