Product Details

SNP ID

rs138411334

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:12799294 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTAACGACAACCTGATGGAACT[C/T]CTCATCATGATCAATGCCTGCAAGA

Phenotype

MIM: 311860

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPS2 PubMed Links

Gene Details

Gene

PRPS2

Gene Name

phosphoribosyl pyrophosphate synthetase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039091.2	353	Silent Mutation	CTC,CTT	L70L	NP_001034180.1
NM_002765.4	353	Silent Mutation	CTC,CTT	L70L	NP_002756.1

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