TPO

thyroid peroxidase

Summary

This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]

Known Variants627 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9679635	2:1,398,252	T/C	intron variant	—
rs11675434	2:1,407,815	C/G	—	—
rs11694732	2:1,408,350	G/C	intron variant	—
rs191174198	2:1,416,407	T/C	—	uncertain significance
rs2071403	2:1,417,244	A/G	5 prime UTR variant	benign
rs1662565752	2:1,417,250	C/T	—	uncertain significance
rs28909986	2:1,417,268	C/T	—	uncertain significance
rs531273408	2:1,417,309	G/C	—	uncertain significance
rs886054871	2:1,417,336	T/C	—	uncertain significance
rs777940436	2:1,418,169	G/A	—	uncertain significance
rs151268825	2:1,418,188	C/T	—	likely benign
rs61758084	2:1,418,189	G/A	—	conflicting classifications of pathogenicity
rs9678281	2:1,418,192	C/G	—	conflicting classifications of pathogenicity
rs373144454	2:1,418,201	G/A	—	likely benign
rs28909989	2:1,418,210	G/A	—	conflicting classifications of pathogenicity
rs140794688	2:1,418,211	C/T	—	likely benign
rs756354638	2:1,418,218	T/C	—	uncertain significance
rs1259378236	2:1,418,227	C/A	—	uncertain significance
rs771109087	2:1,418,252	G/A	—	likely benign
rs746958436	2:1,418,258	G/A	—	likely benign
rs768479756	2:1,418,261	A/G	—	likely benign
rs762643817	2:1,418,281	A/G	—	likely benign
rs2545711615	2:1,418,282	G/A	—	likely benign
rs184087573	2:1,418,287	C/T	—	conflicting classifications of pathogenicity
rs1662686318	2:1,418,289	C/T	—	likely benign
rs2545711667	2:1,418,290	A/G	—	likely benign
rs2545711683	2:1,418,291	T/C	—	likely benign
rs140731750	2:1,418,294	C/A	—	likely benign
rs2276702	2:1,426,621	A/G	—	benign
rs2276701	2:1,426,787	G/A	—	benign
rs2545770529	2:1,426,798	G/A	—	likely benign
rs182006274	2:1,426,800	G/T	—	likely benign
rs116390200	2:1,426,803	A/G	—	conflicting classifications of pathogenicity
rs761317645	2:1,426,808	G/A	—	likely benign
rs757494249	2:1,426,813	G/A	—	conflicting classifications of pathogenicity
rs2545770831	2:1,426,816	G/C	—	likely pathogenic
rs758380839	2:1,426,836	T/A	—	likely benign
rs572043824	2:1,426,845	C/T	—	likely benign
rs2545771175	2:1,426,849	T/C	—	likely benign
rs149346954	2:1,426,887	C/T	—	likely benign
rs1239680578	2:1,426,893	G/A	—	likely benign
rs761194640	2:1,426,902	G/A	—	likely pathogenic
rs371378329	2:1,426,912	C/T	—	likely benign
rs561081779	2:1,426,913	G/A	—	likely benign
rs909021974	2:1,426,914	G/A	—	likely benign
rs758704776	2:1,426,919	G/A	—	likely benign
rs1324569521	2:1,426,921	C/T	—	likely benign
rs9678469	2:1,427,107	G/A	—	benign
rs1473936	2:1,437,163	A/C	—	benign
rs767631564	2:1,437,190	A/G	—	likely benign
rs1396255658	2:1,437,195	C/T	—	likely benign
rs753701275	2:1,437,202	T/G	—	likely benign
rs78253418	2:1,437,204	C/T	—	likely benign
rs17855780	2:1,437,238	C/G	—	uncertain significance
rs200273438	2:1,437,244	C/T	—	pathogenic
rs1478800617	2:1,437,248	T/C	—	uncertain significance
rs1459801387	2:1,437,250	C/T	—	likely benign
rs1466191867	2:1,437,258	T/C	—	likely benign
rs771322429	2:1,437,282	C/T	—	likely benign
rs759809305	2:1,437,295	C/T	—	pathogenic
rs200794960	2:1,437,296	G/A	—	uncertain significance
rs2545838508	2:1,437,325	C/T	—	pathogenic
rs376824080	2:1,437,330	G/A	—	likely benign
rs758238641	2:1,437,360	A/G	—	likely benign
rs150078365	2:1,437,372	T/C	—	likely benign
rs1029043404	2:1,437,376	A/G	—	uncertain significance
rs374499898	2:1,437,378	G/A	—	uncertain significance
rs371245129	2:1,437,388	T/C	—	likely benign
rs749805399	2:1,437,389	G/T	—	likely benign
rs1233863363	2:1,437,391	C/G	—	likely benign
rs2545839041	2:1,437,393	C/T	—	likely benign
rs1665252484	2:1,437,398	C/A	—	likely benign
rs374481717	2:1,437,399	C/G	—	likely benign
rs4927578	2:1,437,410	T/C	—	benign
rs1514687	2:1,437,988	T/A	—	—
rs767225459	2:1,440,006	G/C	—	likely benign
rs2545854602	2:1,440,010	C/T	—	likely benign
rs1322189326	2:1,440,022	A/C	—	likely pathogenic
rs1239602811	2:1,440,037	A/G	—	likely benign
rs201800220	2:1,440,065	T/C	—	likely pathogenic
rs747245287	2:1,440,076	C/T	—	likely benign
rs61758083	2:1,440,078	C/A	—	likely benign
rs1291335870	2:1,440,082	C/T	—	likely benign
rs533324839	2:1,440,085	G/A	—	uncertain significance
rs371787378	2:1,440,088	G/A	—	likely benign
rs1483767054	2:1,440,112	C/T	—	likely benign
rs138509145	2:1,440,117	C/T	—	uncertain significance
rs376413622	2:1,440,118	G/A	—	likely benign
rs757712770	2:1,440,127	C/T	—	likely benign
rs2545855843	2:1,440,129	G/A	—	likely pathogenic
rs779427252	2:1,440,130	G/A	—	likely benign
rs566758211	2:1,440,136	C/T	—	likely benign
rs2545856084	2:1,440,143	G/A	—	uncertain significance
rs1017779313	2:1,440,152	A/G	—	uncertain significance
rs2545856366	2:1,440,174	T/C	—	likely benign
rs28909386	2:1,440,299	A/G	—	benign
rs2070881	2:1,457,364	A/G	—	benign
rs1667519691	2:1,457,447	C/T	—	likely benign
rs2545968903	2:1,457,452	A/G	—	likely benign
rs778063501	2:1,457,459	T/C	—	likely benign

Showing 100 of 627 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.