ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
exon 26 XbaI SI000164LApolipoprotein B (including Ag(x) antigen)APOB
FstAvg Het# Populations Typed
0.1720.30287
Synonyms: rs693 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources:  Typing Protocol Record  GenBank sequence Record  dbSNP ss# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  The polymorphism is due to a single C to T silent base change generating an XbaI site at codon 2488 in exon 26 of the APOB gene. The two alleles are coded as "1" (site absent) and "2" (site present). Using the protocol provided, when the XbaI site is present, the 219 bp product is cut into 136 bp and 83 bp fragments (no constant bands).
Ancestral Allele:  Site Absent
Ancestral Allele Determine by: Digestion of PCR Product on primate DNA
Alleles:
Allele NameAllele SymbolDescription
CC5'-attccgagagac C CTAGA agataca-3'
TT5'-attccgagagac T CTAGA agataca-3'

References:
- Anderson JL, Bunker CH, Aston CE, Kamboh MI. "Relationship of Two Apolipoprotein B Polymorphisms with Serum Lipoprotein and Lipid Levels in African Blacks". Hum. Biol. 69:793-807. (1997) Online citation.

- 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.

- Gajra B, Candlish JK, Heng CK, Mak JW, Saha N. "Genotype Associations among Seven Apolipoprotein B Polymorphisms in a Population of Orang Asli of Western Malaysia". Hum. Biol. 69:629-40. (1997) 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