Product Details

SNP ID

rs201804757

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40093280 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCGGAATTCTCCATGCCCGAGC[A/G]GTCTGTGGGGAAGACGACAGCAGTG

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	1946	Missense Mutation	CGC,TGC	R550C	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	1946	Silent Mutation	GCA,GCG	A418A	NP_001177847.1
NM_001190919.1	1946	Silent Mutation	GCA,GCG	A457A	NP_001177848.1
NM_003250.5	1946	Silent Mutation	GCA,GCG	A457A	NP_003241.2
NM_199334.3	1946	Intron			NP_955366.1

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