Product Details

SNP ID
rs201068417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:88691926 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCCCGGCCCCCTCCACGATGTC[C/T]AAGGCCGAGGAGGCCAAGAAGCTGG
Phenotype
MIM: 180430
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RPIA PubMed Links

Gene Details

Gene
RPIA
Gene Name
ribose 5-phosphate isomerase A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144563.2 269 Silent Mutation TCC,TCT S76S NP_653164.2

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