Product Details

SNP ID
rs200829481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18832271 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACTTTCCTGGACACGGAGGAGG[C/T]CGAGCTGCTTGGCGCCGACACACAG
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_001297549.1 346 Missense Mutation GCC,GTC A21V NP_001284478.1
NM_002911.3 346 Missense Mutation GCC,GTC A21V NP_002902.2
XM_017027105.1 346 Missense Mutation GCC,GTC A21V XP_016882594.1
XM_017027106.1 346 Missense Mutation GCC,GTC A21V XP_016882595.1

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