Product Details

SNP ID

rs199953225

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:75274565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTAGAGGACTGCGAACTCTCCC[A/G]GCAGATCGGGGCGCAGCTTAAGCTG

Phenotype

MIM: 300656

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UPRT PubMed Links

Gene Details

Gene

UPRT

Gene Name

uracil phosphoribosyltransferase homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001307944.1	507	Missense Mutation	CAG,CGG	Q104R	NP_001294873.1
NM_145052.3	507	Missense Mutation	CAG,CGG	Q104R	NP_659489.1
XM_011530867.2	507	Missense Mutation	CAG,CGG	Q104R	XP_011529169.1

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