Product Details

SNP ID
rs149239914
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:28150319 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGATGAACACCGCCAAGACCGTGC[A/C]CACCATCCACAGCGCCCGGCGCTTG
Phenotype
MIM: 173393
Polymorphism
A/C, Transversion 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 1038 Missense Mutation GGC,TGC G235C NP_000943.1
NM_001164721.1 1038 Missense Mutation GGC,TGC G235C NP_001158193.1
NM_001164722.2 1038 Missense Mutation GGC,TGC G235C NP_001158194.1
NM_001164723.2 1038 Missense Mutation GGC,TGC G235C NP_001158195.1

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