Product Details

SNP ID
rs148845598
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129908090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAATGATGGAGAGAGAAAGCATCAA[A/G]AGCTTCTGGAAGCAATCAGTTCCCT
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_001166221.1 223 Missense Mutation AAG,GAG K45E NP_001159693.1
NM_006649.3 223 Missense Mutation AAG,GAG K45E NP_006640.2
XM_017029237.1 223 UTR 5 XP_016884726.1
XM_017029238.1 223 UTR 5 XP_016884727.1

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