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
COL3A1 Alu insertionSI000820KCollagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) COL3A1
FstAvg Het# Populations Typed
0.190.13761
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources:  Typing Information Record  
References: See References
Polymorphism Description:  This Alu insertion polymorphism is located in intron 8 of the gene COL3A1. It has a high degree of nucleotide identity to the Sb family of Alu elements, a family of older Alu elements.
Alleles:
Allele NameAllele SymbolDescription
Alu Deletion-
Alu Insertion+

References:
- Milewicz DM, Byers PH, Reveille J, Hughes AL, Duvic M. "A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific". J Mol Evol 42:117-23. (1996) Online citation.

- Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Harpending HC, Rogers AR, Jorde LB. "Patterns of ancestral human diversity: An analysis of Alu-insertion and restriction-site polymorphisms". Am J Hum Genet 68:738-752. (2001) 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