Product Details

SNP ID
rs142574766
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:104381290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGACTTCTCCCTTATAGGGTGCAC[A/G]CTCCACAGGGGTAGGTGTGCAAGTC
Phenotype
MIM: 613326
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DPYS PubMed Links

Gene Details

Gene
DPYS
Gene Name
dihydropyrimidinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001385.2 1571 Missense Mutation CGT,TGT R490C NP_001376.1
XM_005250818.3 1571 Missense Mutation CGT,TGT R526C XP_005250875.1
XM_006716518.3 1571 Missense Mutation CGT,TGT R473C XP_006716581.1
XM_011516903.2 1571 Intron XP_011515205.1
XM_017013167.1 1571 Intron XP_016868656.1

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