Product Details

SNP ID
rs140738774
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:134532013 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACGTCTATCTTATTCACTGGCCA[C/T]AGGGATTCAAGGTTTAAGACACTCT
Phenotype
MIM: 604707
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AKR1B10 PubMed Links

Gene Details

Gene
AKR1B10
Gene Name
aldo-keto reductase family 1 member B10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020299.4 660 Nonsense Mutation CAG,TAG Q114* NP_064695.3
XM_011516416.1 660 Intron XP_011514718.1
XM_011516417.2 660 Nonsense Mutation CAG,TAG Q114* XP_011514719.1

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