Hs01781288_cn

• Gene Symbol: DIO1
• Assay Reference Genome Location: Chr.1:53910719 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 1733
• Gene Name: deiodinase, iodothyronine type I
• Gene Aliases: 5DI, TXDI1
• Location: Chr.1:53894187-53911086 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIO1	NM_000792.6	4	1494	NP_000783.2
	NM_001039715.2	3	1350	NP_001034804.1
	NM_001039716.2	3	1294	NP_001034805.1
	NM_001324316.1	2	1150	NP_001311245.1
	NM_213593.4	4	1302	NP_998758.1
	NR_136692.1	4	1385
	NR_136693.1	5	1411
	AW294928.1	1	384
	BC017955.1	3	1293	AAH17955.2
	BE046205.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1011262	Chr.1:53542956 - 54106304 on Build GRCh38	Gain	MIR4781 DIO1 YIPF1 HSPB11 NDC1 GLIS1 LDLRAD1 TCEANC2 LRRC42 TMEM59

More Information

Additional Information:

For this assay, SNP(s) [rs116793360] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

thyroid hormone generation
hormone biosynthetic process
oxidation-reduction process

Function(s)

thyroxine 5'-deiodinase activity
selenium binding