Product Details

SNP ID
rs201489343
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:18027436 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATATGATCCGCACCTGCTATAGAG[A/G]GCATATTTGCAACAAGCTTGGCAGA
Phenotype
MIM: 611566
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PRPS1L1 PubMed Links

Gene Details

Gene
PRPS1L1
Gene Name
phosphoribosyl pyrophosphate synthetase 1-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_175886.2 428 Missense Mutation CCC,CTC P116L NP_787082.1

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