Product Details

SNP ID
rs70965424
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17507193 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTGATCCCACAGCTCCCGCAGG[C/T]GCTGGGCTGCTGCCAGGGAGGAGGG
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_001267551.1 662 Intron NP_001254480.1
NM_001267552.1 662 Silent Mutation GCA,GCG A195A NP_001254481.1
NM_007169.2 662 Intron NP_009100.2
NM_148172.2 662 Intron NP_680477.1
NM_148173.1 662 Intron NP_680478.1
XM_006721418.3 662 Intron XP_006721481.2
XM_017024016.1 662 Intron XP_016879505.1

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