Product Details

SNP ID
rs143564742
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129908672 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATATCGTTTTGCCTAATTTCAGGC[A/G]GAAATTGGCTGAGAGGTCTGAGGCT
Phenotype
MIM: 300508
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UTP14A PubMed Links

Gene Details

Gene
UTP14A
Gene Name
UTP14A small subunit processome component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166221.1 266 Missense Mutation CAG,CGG Q59R NP_001159693.1
NM_006649.3 266 Missense Mutation CAG,CGG Q59R NP_006640.2
XM_017029237.1 266 UTR 5 XP_016884726.1
XM_017029238.1 266 UTR 5 XP_016884727.1

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