Product Details

SNP ID

rs200636744

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:53894534 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCAGGACAGAGGTGCAACATTTG[A/G]GAGTTTATGCAAGGTCAGGAGGCTG

Phenotype

MIM: 147892

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DIO1 PubMed Links

Gene Details

Gene

DIO1

Gene Name

deiodinase, iodothyronine type I

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000792.6	348	Nonsense Mutation	TGA,TGG	*108W	NP_000783.2
NM_001039715.2	348	Nonsense Mutation	TGA,TGG	*108W	NP_001034804.1
NM_001039716.2	348	Nonsense Mutation	TGA,TGG	*108W	NP_001034805.1
NM_001324316.1	348	Nonsense Mutation	TGA,TGG	*108W	NP_001311245.1
NM_213593.4	348	Intron			NP_998758.1

Gene

YIPF1

Gene Name

Yip1 domain family member 1

There are no transcripts associated with this gene.

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