Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Silent phenotype, splicing defect Primo-Parmo_1996_Am.J.Hum.Genet_58_52
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant Natural mutation || Natural mutation
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
IVS2E3-8G I2E3-8G altered splicing between Intron 2 and exon 3, nt -8 at the acceptor site of intron 2, T->G I2E3-8G
| Title : Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene - Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
| Author(s) : Primo-Parmo SL , Bartels CF , Wiersema B , van der Spek AF , Innis JW , La Du BN |
| Ref : American Journal of Human Genetics , 58 :52 , 1996 |
| Abstract : |
| PubMedSearch : Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
| PubMedID: 8554068 |