Product Details

SNP ID
rs200896808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17512560 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAAGAAGCTGGAGAGCACGAGCA[C/T]GACGCCCAGTCCCAGGAGCGCGAGG
Phenotype
MIM: 602391
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PEMT PubMed Links

Gene Details

Gene
PEMT
Gene Name
phosphatidylethanolamine N-methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267551.1 279 Missense Mutation ATG,GTG M117V NP_001254480.1
NM_001267552.1 279 Missense Mutation ATG,GTG M139V NP_001254481.1
NM_007169.2 279 Missense Mutation ATG,GTG M102V NP_009100.2
NM_148172.2 279 Missense Mutation ATG,GTG M139V NP_680477.1
NM_148173.1 279 Missense Mutation ATG,GTG M102V NP_680478.1
XM_006721418.3 279 Missense Mutation ATG,GTG M118V XP_006721481.2
XM_017024016.1 279 Missense Mutation ATG,GTG M28V XP_016879505.1

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