Product Details

SNP ID
rs61744002
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:129911802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAGCATTCAATAAAACCGCACAA[A/G]TCCTCTCCAAATGGGACCCTGTCGT
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_001166221.1 508 Intron NP_001159693.1
NM_006649.3 508 Missense Mutation ATC,GTC I140V NP_006640.2
XM_017029237.1 508 UTR 5 XP_016884726.1
XM_017029238.1 508 UTR 5 XP_016884727.1

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