Product Details

SNP ID
rs200539215
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40093254 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCGTCTCCTGGAGCTGCTCCAC[C/T]GAAGCGGAATTCTCCATGCCCGAGC
Phenotype
MIM: 602408 MIM: 190120
Polymorphism
C/T, 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 1920 Silent Mutation TCA,TCG S558S 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 1920 Nonsense Mutation CGA,TGA R410* NP_001177847.1
NM_001190919.1 1920 Nonsense Mutation CGA,TGA R449* NP_001177848.1
NM_003250.5 1920 Nonsense Mutation CGA,TGA R449* NP_003241.2
NM_199334.3 1920 Intron NP_955366.1

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