Product Details

SNP ID
rs201074393
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:104304148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTCCTTAACCGAGGCTCTGGAG[A/G]AAGCCAACGTCCTCTTTGATGGCGT
Phenotype
MIM: 612986 MIM: 601112
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EID3 PubMed Links

Gene Details

Gene
EID3
Gene Name
EP300 interacting inhibitor of differentiation 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008394.2 417 Missense Mutation AAA,GAA K72E NP_001008395.1
Gene
TXNRD1
Gene Name
thioredoxin reductase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001093771.2 417 Intron NP_001087240.1
NM_001261445.1 417 Intron NP_001248374.1
NM_001261446.1 417 Intron NP_001248375.1
NM_003330.3 417 Intron NP_003321.3
NM_182729.2 417 Intron NP_877393.1
NM_182742.2 417 Intron NP_877419.1
NM_182743.2 417 Intron NP_877420.1

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