Product Details

SNP ID
rs80338674
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:107640931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGCCAATCTCAGCCAAGCTTGT[C/T]GCAAATATGCTATCTGTAGCAGGTG
Phenotype
MIM: 311850
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PRPS1 PubMed Links

Gene Details

Gene
PRPS1
Gene Name
phosphoribosyl pyrophosphate synthetase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204402.1 Intron NP_001191331.1
NM_002764.3 Intron NP_002755.1

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