Product Details

SNP ID
rs139459586
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:97079076 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGTCGACAATAGGGCAAACACTG[A/C]GACACAGAGTACAGCCTGTACAAGT
Phenotype
MIM: 612779
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DPYD PubMed Links

Gene Details

Gene
DPYD
Gene Name
dihydropyrimidine dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000110.3 3325 Missense Mutation CGC,CTC R993L NP_000101.2
NM_001160301.1 3325 Intron NP_001153773.1
XM_005270562.3 3325 Missense Mutation CGC,CTC R921L XP_005270619.2
XM_006710397.3 3325 Intron XP_006710460.1
XM_017000507.1 3325 Missense Mutation CGC,CTC R956L XP_016855996.1
XM_017000508.1 3325 Missense Mutation CGC,CTC R828L XP_016855997.1
XM_017000509.1 3325 Missense Mutation CGC,CTC R828L XP_016855998.1
XM_017000510.1 3325 Missense Mutation CGC,CTC R828L XP_016855999.1

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