Product Details

SNP ID
rs13189440
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:79069793 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGAGCCGCGGCACCATGGCACCTG[A/C]TGGACGCCCGGGGGCCAAGAAGGTG
Phenotype
MIM: 605932 MIM: 605849
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BHMT2 PubMed Links

Gene Details

Gene
BHMT2
Gene Name
betaine--homocysteine S-methyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178005.1 70 Missense Mutation GAT,GCT D4A NP_001171476.1
NM_017614.4 70 Missense Mutation GAT,GCT D4A NP_060084.2
Gene
DMGDH
Gene Name
dimethylglycine dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013391.3 70 Intron NP_037523.2
XM_006714597.2 70 Intron XP_006714660.1
XM_011543354.2 70 Intron XP_011541656.1
XM_011543355.2 70 Intron XP_011541657.1

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