ALFRED detailed record information
Frequency Display Formats:
References: See References
Polymorphism Description: This is a C>G change located in intron 1, 24 nt upstream of the start of exon2. The primers used for screening this polymorphism:
5'-GGATAAGCATTCTGCCCTCA -3' (forward) and
5'-TGCTTGACAAAACTGGAAGTTG -3' (Reverse).
|Allele Name||Allele Symbol||Description|
- 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