Product Details

SNP ID
rs147341040
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48936182 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCGCGGAGGCCCGATCCCGAGCCC[A/T]CTTCCTTATGGAGGTGAGGGCAGAG
Phenotype
MIM: 606377
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DHDH PubMed Links

Gene Details

Gene
DHDH
Gene Name
dihydrodiol dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014475.3 953 Missense Mutation CAC,CTC H118L NP_055290.1
XM_005258748.4 953 Intron XP_005258805.1
XM_017026598.1 953 Missense Mutation CAC,CTC H35L XP_016882087.1

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