Product Details

SNP ID
rs35427308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18845988 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGCGTTCTGCTGCAGGTTGGGCC[C/T]GAAGGCATCCTGCAGAACGGGGCTG
Phenotype
MIM: 601430
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UPF1 PubMed Links

Gene Details

Gene
UPF1
Gene Name
UPF1, RNA helicase and ATPase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297549.1 524 Silent Mutation CCC,CCT P80P NP_001284478.1
NM_002911.3 524 Silent Mutation CCC,CCT P80P NP_002902.2
XM_017027105.1 524 Silent Mutation CCC,CCT P80P XP_016882594.1
XM_017027106.1 524 Silent Mutation CCC,CCT P80P XP_016882595.1

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