Product Details

SNP ID
rs181992497
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:127923137 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGAATAAAATTCAGAACATGAAA[A/G]AATTAGCAGAAATGATTGATGTGGT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KBTBD12 PubMed Links

Gene Details

Gene
KBTBD12
Gene Name
kelch repeat and BTB domain containing 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207335.2 543 Missense Mutation AAA,GAA K26E NP_997218.2
XM_005247167.1 543 Missense Mutation AAA,GAA K26E XP_005247224.1
XM_005247168.4 543 Missense Mutation AAA,GAA K26E XP_005247225.1
XM_011512490.2 543 Missense Mutation AAA,GAA K26E XP_011510792.1
XM_011512491.2 543 Missense Mutation AAA,GAA K26E XP_011510793.1
XM_011512492.2 543 Nonsense Mutation AAA,GAA K26E XP_011510794.1

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