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
intron 4 TaqI SI000607NCoagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)F9
FstAvg Het# Populations Typed
0.1650.10513
Synonyms: rs398101 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record  dbSNP rs# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  The TaqI site is located in intron 4.
Alleles:
Allele NameAllele SymbolDescription
TaqI Site Absent15'-actatattgattaca NNNN aaatgttacat-3'
TaqI Site Present25'-actatattgattaca TCGA aaatgttacat-3'

References:
- Franco RF, Araujo AG, Zago MA, Guerreiro JF, Figueiredo MS. "Factor IX gene haplotypes in Amerindians". Hum. Biol. 69:1- 9. (1997) Online citation.

- Giannelli F, Anson DS, Choo KH, Rees DJ, Winship PR, Ferrari N, Rizza CR, Brownlee GG. "Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). ". Lancet. 1:239-41. . (1984) Online citation.

- Graham JB, Kunkel GR, Egilmez NK, Wallmark A, Fowlkes DM, Lord ST. "The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups ". Am J Hum Genet 49:537-44. (1991) 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