Product Details

SNP ID
rs111244642
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129909874 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGGGCAAATAACAATGTATTCCA[A/G]GCGTACTTATTCAGTGGATATTTAT
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 Intron NP_001159693.1
NM_006649.3 Intron NP_006640.2
XM_017029237.1 Intron XP_016884726.1
XM_017029238.1 Intron XP_016884727.1

View Full Product Details