Product Details

SNP ID
rs147358907
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18832323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCGAGTTCGAGTTCACCGACTT[C/T]ACTCTTCCTAGCCAGACGCAGACGC
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_001297549.1 398 Silent Mutation TTC,TTT F38F NP_001284478.1
NM_002911.3 398 Silent Mutation TTC,TTT F38F NP_002902.2
XM_017027105.1 398 Silent Mutation TTC,TTT F38F XP_016882594.1
XM_017027106.1 398 Silent Mutation TTC,TTT F38F XP_016882595.1

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