Product Details

SNP ID

rs142788946

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44287012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCCAGCCCCGGAAGGGGAGGAA[G/T]CCCCCGGCCGTCCCCAAGGCTTTGG

Phenotype

MIM: 607358

Polymorphism

G/T, Transversion 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	511	Missense Mutation	AAG,AAT	K114N	NP_000374.1

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