The Singapore Human Mutation
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<< Gene or Locus List >>

SERPINC1
OMIM: +107300
Gene Name: serpin peptidase inhibitor, clade C (antithrombin), member 1

encodes antithrombin III (ATIII); member of serine proteinase inhibitor family; inactivates several coagulation factors e.g. thrombin

2 mutations/polymorphisms recorded....
[1] Length polymorphism 5' untranslated to exon 1 : Paper 1
[2] Site polymorphism (Ddel) of intron 5 : Paper 1



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