Product Details

SNP ID
rs3746964
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:44286105 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCTTCCCACTGCTGCACGCGCTGGC[C/T]GACCACGACGTGGTCCCCGAGGACA
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_000383.3 268 Silent Mutation GCC,GCT A33A NP_000374.1

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