Product Details

SNP ID
rs137909912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:48099742 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGATATTCTCTATCATTTCAATCT[C/T]ACCACTAGCAGACACAATTTCCCAG
Phenotype
MIM: 191730
Polymorphism
C/T, 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_001287426.1 522 Silent Mutation CTC,CTT L39L NP_001274355.1
NM_001287428.1 522 Intron NP_001274357.1
NM_001287429.1 522 Intron NP_001274358.1
NM_001287430.1 522 Intron NP_001274359.1
NM_003364.3 522 Silent Mutation CTC,CTT L39L NP_003355.1
XM_005249838.4 522 Intron XP_005249895.1
XM_011515512.2 522 Silent Mutation CTC,CTT L39L XP_011513814.1
XM_011515513.2 522 Intron XP_011513815.1
XM_011515514.2 522 Intron XP_011513816.1
XM_011515515.2 522 UTR 5 XP_011513817.1

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