Product Details

SNP ID
rs12976276
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18832389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCCCGGGCGGTGGCGGCGCGGG[A/T]GGCCCGGGCGGCGCGGGCGCGGGCG
Phenotype
MIM: 601430
Polymorphism
A/T, Transversion 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_001297549.1 464 Silent Mutation GGA,GGT G60G NP_001284478.1
NM_002911.3 464 Silent Mutation GGA,GGT G60G NP_002902.2
XM_017027105.1 464 Silent Mutation GGA,GGT G60G XP_016882594.1
XM_017027106.1 464 Silent Mutation GGA,GGT G60G XP_016882595.1

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