Product Details

SNP ID
rs202132979
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:28150274 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAGGGTCCAGGGCAGCTGCACCA[C/T]GTGGTGGGGCACGAAGCAGATGATG
Phenotype
MIM: 173393
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTAFR PubMed Links

Gene Details

Gene
PTAFR
Gene Name
platelet activating factor receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000952.4 1083 Missense Mutation ATG,GTG M250V NP_000943.1
NM_001164721.1 1083 Missense Mutation ATG,GTG M250V NP_001158193.1
NM_001164722.2 1083 Missense Mutation ATG,GTG M250V NP_001158194.1
NM_001164723.2 1083 Missense Mutation ATG,GTG M250V NP_001158195.1

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