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
(CGG)n trinucleotide STRPSI663768Ksolute carrier family 40 (iron-regulated transporter), member 1SLC40A1
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: 
References: See References
Polymorphism Description:  This is a tri nucleotide repeat polymorphism with CGG microsatellite repeating seven to nine times 5 nt upstream of the start of transcription.
Alleles:
Allele NameAllele SymbolDescription
(CGG)7(CGG)7
(CGG)8(CGG)8
(CGG)9(CGG)9

References:
- Albuquerque D, Manco L, Loua KM, Arez AP, Trovoada Mde J, Relvas L, Millimono TS, Rath SL, Lopes D, Nogueira F, Varandas L, Alvarez M, Ribeiro ML. "SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples". Ann Hum Biol. 38:378-81. (2011) Online citation.

- Altès A, Bach V, Ruiz A, Esteve A, Remacha AF, Sardà MP, Felez J, Baiget M. "Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?". Ann Hematol. 88:341-5. (2009) 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