ALFRED detailed record information
Synonyms: rs1042031 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: Typing Protocol Record GenBank sequence Record dbSNP ss# Record dbSNP rs# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: The polymorphism is due to a single G to A base change disrupting the ancestral EcoRI site and changing a Glutamine to a Lysine at codon 4154 in exon 29 of the APOB gene. This polymorphism is also known as exon 29 Glu4154Lys (also known as AG*T,Z) polymorphism (UID=SI000585S). The two alleles are coded as "1" (site absent) and "2" (site present). Using the protocol provided, when the EcoRI site is present, the 924 bp product is cut into 571 bp and 353 bp fragments (no constant bands).
Ancestral Allele: Site Present
Ancestral Allele Determine by: Digestion of PCR Product on primate DNA
|Allele Name||Allele Symbol||Description|
|EcoRI Site Absent (1)||A||5'-ggtacgagttactcaa A AATTC catatga-3'|
|EcoRI Site Present (2)||G||5'-ggtacgagttactcaa G AATTC catatga-3'|
- Boerwinkle E, Lee SS, Butler R, Schumaker VN, Chan L. "Rapid typing of apolipoprotein B DNA polymorphisms by DNA amplification. Association between Ag epitopes of human apolipoprotein B-100, a signal peptide insertion/deletion polymorphism, and a 3'flanking DNA variable number of tandem repeats polymorphism of the apolipoprotein B gene". Atherosclerosis 81:225-32. (1990) Online citation.
- Scacchi R, Corbo RM, Rickards O, Mantuano E, Guevara A, De Stefano GF. "Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador". Hum. Biol. 69:375-382. (1997) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan