Product Details

SNP ID
rs141992449
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129911820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCACAAGTCCTCTCCAAATGGGAC[C/G]CTGTCGTCCTGAAGAACCGGCAGGC
Phenotype
MIM: 300508
Polymorphism
C/G, 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_001166221.1 526 Intron NP_001159693.1
NM_006649.3 526 Missense Mutation CCT,GCT P146A NP_006640.2
XM_017029237.1 526 UTR 5 XP_016884726.1
XM_017029238.1 526 UTR 5 XP_016884727.1

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