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

Name	ALFRED UID	Locus Name	Locus Symbol
MnlI (Malmo)	SI001040F	Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	F9

Fst	Avg Het	# Populations Typed
0.154	0.164	55

Synonyms: rs6048 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: dbSNP ss# Record GenBank sequence Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: G->A substitution causes an amino acid change from Alanine to Threonine in the exon 6 of the gene F9.
Alleles:

Allele Name	Allele Symbol	Description
A	A	5'-cttctaagctcacccgtgctgag A ctgtttttcctgatgtgga -3'
G	G	5'-cttctaagctcacccgtgctgag G ctgtttttcctgatgtgga -3'

References:
- 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.

- Graham JB, Kunkel GR, Tennyson GS, Lord ST, Fowlkes DM. "The Malmo polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA. ". Blood. 73:2104-7. (1989) Online citation.

- McGraw RA, Davis LM, Noyes CM, Lundblad RL, Roberts HR, Graham JB, Stafford DW. "Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX". Proc Natl Acad Sci U S A. 82:2847-51. (1985) 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