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
9 bp_Ins/Del (version 2)SI000570MApolipoprotein B (including Ag(x) antigen)APOB
Synonyms: rs11279109 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record  GenBank sequence Record  GenBank sequence Record  dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  An insertion or deletion of three codons involving three amino acids, Leucine-Alanine-Leucine within exon 1 of the APOB gene causes variation in the length of the signal peptide of the apoB protein (Anderson, et. al., 1997). Also known as SP24, 27 polymorphism (UID=SI000581O) .
Alleles:
Allele NameAllele SymbolDescription
8484A band size of 84 bp corresponded to the deletion allele
9393A band size of 93 bp corresponded to the insertion allele
999999 bp is a rare allele

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.

© 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