Product Details

SNP ID
rs144630001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:75274469 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGACTCTGGGGCCTGCGGCGGCT[C/T]CAGCCTCAACTCAGAGGGCAACAGT
Phenotype
MIM: 300656
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UPRT PubMed Links

Gene Details

Gene
UPRT
Gene Name
uracil phosphoribosyltransferase homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307944.1 411 Missense Mutation TCC,TTC S72F NP_001294873.1
NM_145052.3 411 Missense Mutation TCC,TTC S72F NP_659489.1
XM_011530867.2 411 Missense Mutation TCC,TTC S72F XP_011529169.1

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