Product Details

SNP ID
rs200993297
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:64453794 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAATCAGGATCATTGCACAGAAGA[C/T]CTATGGAGCAGATGACATTGAATTA
Phenotype
MIM: 172460 MIM: 194541
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 2885 Missense Mutation ACC,ATC T833I NP_005947.3
Gene
ZBTB25
Gene Name
zinc finger and BTB domain containing 25
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304507.1 2885 Intron NP_001291436.1
NM_001304508.1 2885 Intron NP_001291437.1
NM_006977.3 2885 Intron NP_008908.2
XM_005268051.3 2885 Intron XP_005268108.1
XM_006720250.3 2885 Intron XP_006720313.1
XM_006720251.3 2885 Intron XP_006720314.1
XM_006720252.3 2885 Intron XP_006720315.1
XM_011537139.1 2885 Intron XP_011535441.1
XM_011537141.2 2885 Intron XP_011535443.1
XM_011537143.2 2885 Intron XP_011535445.1
XM_011537146.2 2885 Intron XP_011535448.1
XM_017021630.1 2885 Intron XP_016877119.1
XM_017021631.1 2885 Intron XP_016877120.1
XM_017021632.1 2885 Intron XP_016877121.1
XM_017021633.1 2885 Intron XP_016877122.1
XM_017021634.1 2885 Intron XP_016877123.1
XM_017021635.1 2885 Intron XP_016877124.1
XM_017021636.1 2885 Intron XP_016877125.1
XM_017021637.1 2885 Intron XP_016877126.1
XM_017021638.1 2885 Intron XP_016877127.1

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