Product Details

SNP ID

rs201273235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:88698539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACAATTGTCCATGCTGTGCAGC[A/G]AATAGGTATGCTCTCTCACTGTCTA

Phenotype

MIM: 180430

Polymorphism

A/G, 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	382	Missense Mutation	CAA,CGA	Q114R	NP_653164.2

View Full Product Details