Product Details
- SNP ID
-
rs179363882
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:44286678 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTGGAGGGTGCTGTTCAAGGACT[A/G]CAACCTGGAGCGCTATGGCCGGCTG
- Phenotype
-
MIM: 607358
- Polymorphism
- A/G, 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 |
423 |
Missense Mutation |
TAC,TGC |
Y85C |
NP_000374.1 |
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