Product Details

SNP ID
rs144948056
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:94576356 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTCCAAGGCACTTTAGGTCTCC[A/T]TCCTAAGCCATGTATTTTTTCTGAC
Phenotype
MIM: 616146
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TGDS PubMed Links

Gene Details

Gene
TGDS
Gene Name
TDP-glucose 4,6-dehydratase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304430.1 1155 Missense Mutation AGG,TGG R282W NP_001291359.1
NM_014305.3 1155 Missense Mutation AGG,TGG R314W NP_055120.1
XM_011521065.2 1155 Missense Mutation AGG,TGG R282W XP_011519367.1
XM_011521066.2 1155 Missense Mutation AGG,TGG R282W XP_011519368.1

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