Product Details

SNP ID
rs138907959
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:94576360 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAAGGCACTTTAGGTCTCCATCC[A/T]AAGCCATGTATTTTTTCTGACTTCA
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 1151 Missense Mutation TTA,TTT L280F NP_001291359.1
NM_014305.3 1151 Missense Mutation TTA,TTT L312F NP_055120.1
XM_011521065.2 1151 Missense Mutation TTA,TTT L280F XP_011519367.1
XM_011521066.2 1151 Missense Mutation TTA,TTT L280F XP_011519368.1

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