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
TUB20 PvuIISI000236LCystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)CFTR
FstAvg Het# Populations Typed
0.0890.21418
Synonyms: rs214164 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  TUB20 PvuII is a SNP -- a G>A nucleotide substitution found in intron 20 (intervening sequence, IVS) of the gene.
Ancestral Allele:  Site Present
Ancestral Allele Determine by: Digest PCR product with PvuII on primate samples.
Alleles:
Allele NameAllele SymbolDescription
Restriction Site Absent1 (PvuII-)
Restriction Site Present2 (PvuII+)Nucleotide sequence: 5'...CAGCTG...3'

References:
- Mateu E, Calafell F, Lao O, Bonne-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J. "Worldwide genetic analysis of the CFTR region". Am. J. Hum. Genet. 68:103-117. (2001) Online citation.

- Quere I, Guillermit H, Mercier B, Audrezet MP, Ferec C. "A polymorphism in intron 20 of the CFTR gene.". Nucleic Acids Research 19:5453. (1991) 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