Product Details

SNP ID
rs139524224
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:28150336 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCGTGCACACCATCCACAGCGCC[C/T]GGCGCTTGACTTCAGCGTTGCGCTG
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 1021 Missense Mutation CAG,CGG Q229R NP_000943.1
NM_001164721.1 1021 Missense Mutation CAG,CGG Q229R NP_001158193.1
NM_001164722.2 1021 Missense Mutation CAG,CGG Q229R NP_001158194.1
NM_001164723.2 1021 Missense Mutation CAG,CGG Q229R NP_001158195.1

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