Product Details

SNP ID
rs140621950
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17505826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGGGACCCGGAGGCTTTCTGCC[A/G]GTAGATCTCAGCGGTGAAGGGCCTG
Phenotype
MIM: 602391 MIM: 605550
Polymorphism
A/G, 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_001267551.1 540 Missense Mutation CGG,TGG R204W NP_001254480.1
NM_001267552.1 540 UTR 3 NP_001254481.1
NM_007169.2 540 Missense Mutation CGG,TGG R189W NP_009100.2
NM_148172.2 540 Missense Mutation CGG,TGG R226W NP_680477.1
NM_148173.1 540 Missense Mutation CGG,TGG R189W NP_680478.1
XM_006721418.3 540 Missense Mutation CGG,TGG R205W XP_006721481.2
XM_017024016.1 540 Missense Mutation CGG,TGG R115W XP_016879505.1
Gene
RASD1
Gene Name
ras related dexamethasone induced 1
There are no transcripts associated with this gene.

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