Product Details

SNP ID

rs200279652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40093142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGAATGCATGTTGTTCAGGGTCC[A/G]CAGGTCCGGCAGCTTGAGCAGCAGC

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	1808	Missense Mutation	CGG,TGG	R596W	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	1808	Silent Mutation	CCA,CCG	P372P	NP_001177847.1
NM_001190919.1	1808	Silent Mutation	CCA,CCG	P411P	NP_001177848.1
NM_003250.5	1808	Silent Mutation	CCA,CCG	P411P	NP_003241.2
NM_199334.3	1808	Intron			NP_955366.1

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