Product Details

SNP ID
rs77919485
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:28150255 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTGGAAGCCCAGCTCAGCAAGG[G/T]TCCAGGGCAGCTGCACCACGTGGTG
Phenotype
MIM: 173393
Polymorphism
G/T, 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 1102 Missense Mutation AAC,ACC N256T NP_000943.1
NM_001164721.1 1102 Missense Mutation AAC,ACC N256T NP_001158193.1
NM_001164722.2 1102 Missense Mutation AAC,ACC N256T NP_001158194.1
NM_001164723.2 1102 Missense Mutation AAC,ACC N256T NP_001158195.1

View Full Product Details