Product Details

SNP ID
rs148864394
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:104381269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCACTCTGGATTTCAGTGTGGCGA[C/T]TTCTCCCTTATAGGGTGCACGCTCC
Phenotype
MIM: 613326
Polymorphism
C/T, 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 1592 Missense Mutation ATC,GTC I497V NP_001376.1
XM_005250818.3 1592 Missense Mutation ATC,GTC I533V XP_005250875.1
XM_006716518.3 1592 Missense Mutation ATC,GTC I480V XP_006716581.1
XM_011516903.2 1592 Intron XP_011515205.1
XM_017013167.1 1592 Intron XP_016868656.1

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