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
intron 8 Alu Ins/Del	SI000130E	Dystrophia myotonica-protein kinase	DMPK

Fst	Avg Het	# Populations Typed
0.224	0.361	33

Synonyms: rs4646995 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: Typing Protocol Record

GenBank sequence Record dbSNP ss# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This polymorphism is located in intron 8 of DMPK gene, 5 kb telomeric to the (CTG)_n repeat. By the PCR-based protocol given, the PCR product contains fragments of 1008 bp and 494 bp for heterozygous (+/-) sample.
Ancestral Allele: No Alu deletion
Alleles:

Allele Name	Allele Symbol	Description
Alu Deletion	-	5'-ccgaggcgggtggatcac "no 977 bp triple Alu" gaggtcagaagat-3'
Alu Insertion	+	5'-ccgaggcgggtggatcac "977 bp triple Alu" gaggtcagaagat-3'

References:
- Mahadevan MS, Foitzik MA, Surh LC, Korneluk RG. "Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy". Genomics 15:446-8. (1993) Online citation.

- Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonne-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK. "A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations". Am. J. Hum. Genet. 62:1389-402. (1998) 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