Product Details

SNP ID
rs184182216
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:28150490 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAGGACTGGCACGCTGCCCTTCT[C/T]GTAATGCTCAAAGCAGCGAGTGACG
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_000952.4 867 Missense Mutation AAG,GAG K178E NP_000943.1
NM_001164721.1 867 Missense Mutation AAG,GAG K178E NP_001158193.1
NM_001164722.2 867 Missense Mutation AAG,GAG K178E NP_001158194.1
NM_001164723.2 867 Missense Mutation AAG,GAG K178E NP_001158195.1

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