Product Details

SNP ID

rs200567913

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:18027352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGACAGTTGGCTCTGCATACAAG[C/T]TGTCTACTGGGATATCAAAAAAGCC

Phenotype

MIM: 611566

Polymorphism

C/T, 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	512	Missense Mutation	AAC,AGC	N144S	NP_787082.1

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