Product Details

SNP ID
rs200871432
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:25962008 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGCCTACAGGCTGGACAGATGG[C/T]GGGGGGCCCCTGGGGTGAGCGACGG
Phenotype
MIM: 602344
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PAFAH2 PubMed Links

Gene Details

Gene
PAFAH2
Gene Name
platelet activating factor acetylhydrolase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000437.3 1093 Missense Mutation CAC,CGC H387R NP_000428.2
XM_006710669.3 1093 Missense Mutation CAC,CGC H280R XP_006710732.1
XM_006710670.3 1093 Missense Mutation CAC,CGC H387R XP_006710733.1
XM_011541528.2 1093 Missense Mutation CAC,CGC H411R XP_011539830.1
XM_011541529.2 1093 Missense Mutation CAC,CGC H266R XP_011539831.1
XM_017001390.1 1093 Missense Mutation CAC,CGC H266R XP_016856879.1
XM_017001391.1 1093 Missense Mutation CAC,CGC H266R XP_016856880.1
XM_017001392.1 1093 Missense Mutation CAC,CGC H266R XP_016856881.1

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