Product Details

SNP ID
rs200754941
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:116771486 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATTTGTCTGTGAAAGTAAAAAAG[A/C]AGCCTGGAGTTCCTCTCATGTTTAT
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
UTP23 PubMed Links

Gene Details

Gene
UTP23
Gene Name
UTP23, small subunit processome component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032334.2 495 Missense Mutation AAG,CAG K132Q NP_115710.2

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