Product Details

SNP ID
rs146348704
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:500453 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTGGTTGGCTGCTTTAGGTGGG[C/T]TTTAACCTTTTTCTTTTCCGTTTTT
Phenotype
MIM: 173430
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDGFA PubMed Links

Gene Details

Gene
PDGFA
Gene Name
platelet derived growth factor subunit A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002607.5 703 Silent Mutation AAA,AAG K209K NP_002598.4
NM_033023.4 703 Intron NP_148983.1
XM_011515415.1 703 Silent Mutation AAA,AAG K254K XP_011513717.1
XM_011515416.1 703 Silent Mutation AAA,AAG K247K XP_011513718.1
XM_011515417.1 703 Intron XP_011513719.1
XM_011515418.1 703 Intron XP_011513720.1
XM_011515419.2 703 Silent Mutation AAA,AAG K208K XP_011513721.1
XM_017012289.1 703 Silent Mutation AAA,AAG K222K XP_016867778.1

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