Product Details

SNP ID
rs145010817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:501164 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATTCAGGCTTGTGGTCGCGCAGG[C/T]GCACTCCAAATGCTCCTCTAACCTC
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_002607.5 608 Missense Mutation ACC,GCC T178A NP_002598.4
NM_033023.4 608 Missense Mutation ACC,GCC T178A NP_148983.1
XM_011515415.1 608 Missense Mutation ACC,GCC T223A XP_011513717.1
XM_011515416.1 608 Missense Mutation ACC,GCC T216A XP_011513718.1
XM_011515417.1 608 Missense Mutation ACC,GCC T223A XP_011513719.1
XM_011515418.1 608 Missense Mutation ACC,GCC T216A XP_011513720.1
XM_011515419.2 608 Missense Mutation ACC,GCC T177A XP_011513721.1
XM_017012289.1 608 Missense Mutation ACC,GCC T191A XP_016867778.1

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