Product Details

SNP ID

rs143432605

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:101562043 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGCGCATGAGCGCCTTCCAGCGC[C/G]TGGTCACTAAGTACCAGCGCGACGT

Phenotype

MIM: 601038 MIM: 608523

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DIO3 PubMed Links

Gene Details

Gene

DIO3

Gene Name

deiodinase, iodothyronine, type III

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001362.3	693	Missense Mutation	CTG,GTG	L183V	NP_001353.4

Gene

DIO3OS

Gene Name

DIO3 opposite strand/antisense RNA (head to head)

There are no transcripts associated with this gene.

Gene

MIR1247

Gene Name

microRNA 1247

There are no transcripts associated with this gene.

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