Product Details

SNP ID
rs201978007
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:145994563 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCACCAGTAAGGAATATTCAACT[T/C]GAAGGATGTTGCAGCCCAGGATAGA
Phenotype
MIM: 606599
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
TXNIP PubMed Links

Gene Details

Gene
TXNIP
Gene Name
thioredoxin interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001313972.1 1126 Missense Mutation CAA,CGA Q216R NP_001300901.1
NM_006472.5 1126 Missense Mutation CAA,CGA Q271R NP_006463.3
XM_017000085.1 1126 Missense Mutation CAA,CGA Q271R XP_016855574.1

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