A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein ( KLK) locus

The human tissue kallikreins, 15 secreted serine proteases, may play diverse roles in pathophysiology. The National Center for Biotechnology Information's dbSNP was mined for polymorphisms located within the kallikrein ( KLK) locus using custom-designed “ParSNPs” and “LocusAnnotator” software t...

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Veröffentlicht in:Molecular oncology 2007-12, Vol.1 (3), p.303-312
Hauptverfasser: Goard, Carolyn A., Bromberg, Irvin L., Elliott, Marc B., Diamandis, Eleftherios P.
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container_end_page 312
container_issue 3
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container_title Molecular oncology
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creator Goard, Carolyn A.
Bromberg, Irvin L.
Elliott, Marc B.
Diamandis, Eleftherios P.
description The human tissue kallikreins, 15 secreted serine proteases, may play diverse roles in pathophysiology. The National Center for Biotechnology Information's dbSNP was mined for polymorphisms located within the kallikrein ( KLK) locus using custom-designed “ParSNPs” and “LocusAnnotator” software tools. Using “ParSNPs”, a filterable catalogue of 1856 KLK polymorphisms (1023 validated) was generated. “LocusAnnotator” was used to annotate the KLK locus sequence with gene and polymorphism features. A second locus was examined to validate the use of both programs on a non-kallikrein locus. This report may assist in the informed selection of KLK polymorphisms for future association and biochemical studies in relation to disease. Furthermore, “ParSNPs” and “LocusAnnotator” are available at no cost from our website ( www.acdcLab.org/annotations) to examine other loci.
doi_str_mv 10.1016/j.molonc.2007.09.001
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subjects Annotations
Biotechnology
Chromosome Mapping
Chromosomes, Human, Pair 19
Codon, Initiator
Codon, Terminator
Databases, Genetic
Exons
Gene loci
Gene polymorphism
Genetic polymorphism
Genomes
Humans
Introns
Kallikrein
Kallikreins
Polymorphism
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Population
Prostate cancer
Reproducibility of Results
RNA, Messenger - genetics
Serine
Single nucleotide polymorphism
Software
Studies
TATA Box
Tissue kallikrein
Tissue Kallikreins - genetics
title A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein ( KLK) locus
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