Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs6003

Hard Link
rs6003 is a snp on gene F13B (coagulation factor XIII, B polypeptide)

GeneF13B Chromosome number 1 Chromosome position 197061891
Alleles T/C (transliterated to +) Minor Allele C Minor Allele Frequency 0.2382
Notation 344G>A Arg115His H95R R115H Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant.
Gene Function
This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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