Product Details

SNP ID
rs147868279
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17505825 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGTGGGACCCGGAGGCTTTCTGC[A/C]GGTAGATCTCAGCGGTGAAGGGCCT
Phenotype
MIM: 602391 MIM: 605550
Polymorphism
A/C, Transversion 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_001267551.1 541 Missense Mutation NP_001254480.1
NM_001267552.1 541 UTR 3 NP_001254481.1
NM_007169.2 541 Missense Mutation NP_009100.2
NM_148172.2 541 Missense Mutation NP_680477.1
NM_148173.1 541 Missense Mutation NP_680478.1
XM_006721418.3 541 Missense Mutation XP_006721481.2
XM_017024016.1 541 Missense Mutation XP_016879505.1
Gene
RASD1
Gene Name
ras related dexamethasone induced 1
There are no transcripts associated with this gene.

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