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
rs1805171SI000234JCystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)CFTR
Synonyms: rs4148700 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  IVS6aGATT is an STRP -- mostly a dimorphic 4-bp (GATT) tandem repeat found in intron 6a (intervening sequence, IVS) of the gene.
Alleles:
Allele NameAllele SymbolDescription
44Repeat number of (GATT)n, n=4
55Repeat number of (GATT)n, n=5
66Repeat number of (GATT)n, n=6
77Repeat number of (GATT)n, n=7
88Repeat number of (GATT)n, n=8

References:
- Chehab FF, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H. "A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin". Am. J. Hum. Genet. 48:223-6. (1991) Online citation.

- 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.

© 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