Gene Locus : human-ACHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation ACHE:c.1031A>G snp ss23142123 Hasin_2004_Hum.Mutat_24_408
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : snp Natural mutation
Torpedo_number : 306
Kinetic Parameter : No kinetic parameter
News : OCTOBER-21-2004
Comment :
p.E313G Glu313Gly (p.E344G Glu344Gly in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations could not be performed (Hasin et al 2004) rs17228588
| Title : A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene - Hasin_2004_Hum.Mutat_24_408 |
| Author(s) : Hasin Y , Avidan N , Bercovich D , Korczyn A , Silman I , Beckmann JS , Sussman JL |
| Ref : Hum Mutat , 24 :408 , 2004 |
| Abstract : |
| PubMedSearch : Hasin_2004_Hum.Mutat_24_408 |
| PubMedID: 15459952 |