ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Thyroid peroxidase	LO000528P	TPO	2	2p25

Synonyms: MSA ; TPX ; thyroperoxidase ; thyroid microsomal antigen ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence UniGene PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: TPO contains 17 exons and 16 introns, covering at least 150 kilobase pairs of chromosome 2 (Kimura et al., 1989) (Asakawa, 1994)[PMID: 8196171]. The gene encodes a membrane-bound glycoprotein. The encoded product 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. TPO exhibits similar homology to myeloperoxidase (MPO) between the positions of the 3rd and 11th exon-intron junctions (Kimura et al., 1989). 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 (Asakawa, 1994) (Rivolta et al., 2003)[PMID: 12938097].

TPO includes one of the 13 CODIS Core STR markers (SI001071J).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description) dbSNP rs#
(Navigates to dbSNP
reference page) Chr-Position Status # Populations
typed
SRA Tetranucleotide STRP     0 49
rs2298873 rs2298873    1414959 51
rs2071399 rs2071399    1416528 50
rs2071400 rs2071400    1416639 50
rs2071402 rs2071402    1417199 51
rs10193983 rs10193983    1423283 70
rs2276702 rs2276702    1426621 51
rs9678469 rs9678469    1427107 70
rs10519477 rs10519477    1431590 70
rs1567919 rs1567919    1432014 70
rs949832 rs949832    1432564 50
rs4927606 rs4927606    1435296 50
rs1514687 rs1514687    1437988 51
rs1514685 rs1514685    1439265 50
rs1514684 rs1514684    1441178 70
rs11891272 rs11891272    1441970 50
rs4425120 rs4425120    1442417 50
rs17091682 rs17091682    1446396 50
rs7602332 rs7602332    1449966 51
rs6747390 rs6747390    1455003 50
rs950675 rs950675    1456828 66
rs2009364 rs2009364    1456998 63
rs2070882 rs2070882    1458001 70
rs6588669 rs6588669    1458533 51
rs6706775 rs6706775    1459461 70
rs4927611 rs4927611    1460004 51
rs11694726 rs11694726    1460220 50
rs4927615 rs4927615    1462122 51
rs17091737 rs17091737    1464261 51
rs6723319 rs6723319    1467210 70
rs11211654 rs11211654    1474131 51
rs10171105 rs10171105    1476533 50
rs10201842 rs10201842    1476991 50
TPOX (AATG) _n tetranucleotide repeat rs113475620    1493413 160
rs10196514 rs10196514    1494373 69
rs1126797 rs1126797    1497803 69
rs13430369 rs13430369    1498514 50
rs732609 rs732609    1499927 51
rs3755552 rs3755552    1502663 50
rs3755551 rs3755551    1502757 51
rs4927621 rs4927621    1508685 70
rs13414566 rs13414566    1514284 50
rs4927624 rs4927624    1516680 69
rs13398180 rs13398180    1516787 50
rs13405352 rs13405352    1518726 50
rs17732233 rs17732233    1519064 50
rs11896906 rs11896906    1519550 51
rs1126799 rs1126799    1520676 51
rs6711545 rs6711545    1522939 50
rs4927594 rs4927594    1525558 50
rs4927632 rs4927632    1545110 51
rs6605278 rs6605278    1547230 70
rs6705087 rs6705087    1550309 50

References:
- Kenneth K. Kidd et al. "Data unpublished".

- Kimura S, Hong YS, Kotani T, Ohtaki S, Kikkawa F. "Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene". Biochemistry 28:4481-4489. (1989) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan