Product Details

SNP ID
rs199759695
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40093092 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCGGCCGGGCGGGTCACTGGGC[A/G]TCCACCCGGAAGGACAGCAGCTTCT
Phenotype
MIM: 602408 MIM: 190120
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
NR1D1 PubMed Links

Gene Details

Gene
NR1D1
Gene Name
nuclear receptor subfamily 1 group D member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021724.4 1758 Silent Mutation NP_068370.1
Gene
THRA
Gene Name
thyroid hormone receptor, alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190918.1 1758 Intron NP_001177847.1
NM_001190919.1 1758 Missense Mutation ATC,GTC I395V NP_001177848.1
NM_003250.5 1758 Missense Mutation ATC,GTC I395V NP_003241.2
NM_199334.3 1758 Intron NP_955366.1

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