Product Details

SNP ID
rs151049459
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:44287017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCCCGGAAGGGGAGGAAGCCCC[C/T]GGCCGTCCCCAAGGCTTTGGTACCG
Phenotype
MIM: 607358
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AIRE PubMed Links

Gene Details

Gene
AIRE
Gene Name
autoimmune regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000383.3 516 Missense Mutation CCG,CTG P116L NP_000374.1

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