Product Details

SNP ID
rs147807871
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129907377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCTCTTTTAACAGCCTTCTGGCT[G/T]TGAGCCAACAGGAAGAACTAGCGGA
Phenotype
MIM: 300508
Polymorphism
G/T, Transversion 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_001166221.1 127 Missense Mutation GTG,TTG V13L NP_001159693.1
NM_006649.3 127 Missense Mutation GTG,TTG V13L NP_006640.2
XM_017029237.1 127 UTR 5 XP_016884726.1
XM_017029238.1 127 UTR 5 XP_016884727.1

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