ALFRED detailed record information
Polymorphism InformationSynonyms: rs4148700 ;
Frequency Display Formats:
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.
|Allele Name||Allele Symbol||Description|
|4||4||Repeat number of (GATT)n, n=4|
|5||5||Repeat number of (GATT)n, n=5|
|6||6||Repeat number of (GATT)n, n=6|
|7||7||Repeat number of (GATT)n, n=7|
|8||8||Repeat number of (GATT)n, n=8|
- 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