Product Details

SNP ID
rs187713099
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:48099680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGTTTTTTAACAGTGATTGCCCC[A/G]TCAGACTTTTAAATCCAAACATAGC
Phenotype
MIM: 191730
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UPP1 PubMed Links

Gene Details

Gene
UPP1
Gene Name
uridine phosphorylase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287426.1 460 Missense Mutation ATC,GTC I19V NP_001274355.1
NM_001287428.1 460 Intron NP_001274357.1
NM_001287429.1 460 Intron NP_001274358.1
NM_001287430.1 460 Intron NP_001274359.1
NM_003364.3 460 Missense Mutation ATC,GTC I19V NP_003355.1
XM_005249838.4 460 Intron XP_005249895.1
XM_011515512.2 460 Missense Mutation ATC,GTC I19V XP_011513814.1
XM_011515513.2 460 Intron XP_011513815.1
XM_011515514.2 460 Intron XP_011513816.1
XM_011515515.2 460 UTR 5 XP_011513817.1

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