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

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)LO000194OCFTR77q31-q32
Synonyms: ABCC7 ; ATP-binding cassette, sub-family C (CFTR/MRP), member 7 ; CF ; cystic fibrosis transmembrane conductance regulator ; MRP7 ; CBAVD ; ABC35 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   OMIM description    Cystic fibrosis mutation database    Cystic Fibrosis Foundation    NCBI Genes and Disease   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: The CFTR gene, identified in 1989 (Riordan et al.) [PubMed ID: 2475911], encodes the cystic fibrosis transmembrane conductance regulator, an ATP-binding cassette (sub-family C, member 7), which corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial cells. The gene is located on the long arm of chromosome 7 (Rommens et al., 1989) [PubMed ID: 2772657]. The major mutation in Northern Europe results in deletion of a single amino acid phenylalanine at amino acid position 508 of the normal protein and produces an autosomal recessive disease, cystic fibrosis (CF) (Kerem et al., 1989) [PubMed ID: 2570460]. Several short tandem repeat polymorphisms (STRPs, also known as microsatellites) and single-nucleotide polymorphisms (SNPs) have been described within the CFTR gene (Mateu et al., 2001) [PubMed ID: 11104661]. Both types of markers can be used to trace the origin and evolution of the different CF mutations (Morral et al., 1994 [PubMed ID: 7920636] and Bertranpetit and Calafell, 1996 [p.97-118, ISBN: 0471961523]).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
rs6943105rs6943105   11694357751
rs1805171rs1805171   11696380518
rs4148703rs4148703   11696874550
rs3808185rs3808185   11700132550
IVS17b (TA)   11703916018
rs6466615rs6466615   11706638350
rs2283054rs2283054   11712640151
rs2237721rs2237721   11713372051
rs10487368rs10487368   11714009551
rs2237723rs2237723   11714754751
rs2237724rs2237724   11715415951
rs213938rs213938   11716443951
rs1805171rs1805171   1171765695
rs1800503rs1800503   11717673850
rs2027945rs2027945   11718782251
rs213950rs213950   11719953351
rs10487372rs10487372   11720089951
rs213951rs213951   11720243451
rs213952rs213952   11720341751
rs17140229rs17140229   11723028350
rs11978434rs11978434   11723185250
T854 AvaIIrs1042077   11723505519
rs213977rs213977   11723844551
rs2299445rs2299445   11724631551
rs213980rs213980   11725287451
rs17451754rs17451754   11725671250
rs13221882rs13221882   11725826651
rs213986rs213986   11725994662
rs213987rs213987   11726129351
rs213988rs213988   11726230451
rs12534186rs12534186   11729233651
TUB20 PvuIIrs214164   11729269618
rs11974545rs11974545   11729663051
rs17140308rs17140308   11730748750
IVS1 (CA) (1999)   18
IVS1 (CA) (2001)   18
IVS8 (CA)   18
6-site haplotype   18

References:
- Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. "Identification of the cystic fibrosis gene: genetic analysis". Science 245:1073-80. (1989) 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.

- Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek M Jr, Kalaydjieva L, et al. "The origin of the major cystic fibrosis mutation (delta F508) in European populations". Nat. Genet. 7:169-75. (1994) Online citation.

- Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA". Science 245:1066-73. (1989) Online citation.

- Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science 245:1059-65. (1989) Online citation.

- Zielenski J, Tsui LC. "Cystic fibrosis: genotypic and phenotypic variations". Annu. Rev. Genet. 29:777-807. (1995) Online citation.

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© 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