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Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


RS1979277

Hard Link
is a snp on gene SHMT1 (serine hydroxymethyltransferase 1 (soluble))

GeneSHMT1 Chromosome number 17 Chromosome position 18328782
Alleles A/G Minor Allele A Minor Allele Frequency 0.2278
Notation C1420T Leu474Phe Clinical significance uncertain-significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Helps to shift the emphasis of the methylation cycle toward the building blocks needed for new DNA synthesis and away from the processing of homocysteine to methionine.
Gene Function
The SHMT1 gene provides instructions for making a form of the serine hydroxymethyltransferase protein, an enzyme that contains pyridoxal phosphate, a form of vitamin B6. The enzyme helps to convert the amino acid serine and a form of folic acid (tetrahydrofolate) to the amino acid glycine and another form of folic acid (5,10-methylene tetrahydrofolate). The results of this reaction provides the ingredients for making the amino acid methionine and some of the components for making DNA. Variation in C1420T (rs1979277) of the SHMT1 gene can affect the risk of mothers having a Down syndrome baby, with the G allele being protective against Down syndrome. SHMT1 is important in the development of cancer resulting from damage to the repair mechanisms of DNA because it is responsible for a change in the balance of the DNA components uracil and thymidine during replication of DNA.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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