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
TaqI A SI000144JAnkyrin repeat and kinase domain containing 1ANKK1
Previously associated with :  DRD2
FstAvg Het# Populations Typed
0.1260.40168
Synonyms: rs1800497 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: HGVbase Site Definition Record   Typing Protocol Record  GenBank sequence Record  GenBank sequence Record  dbSNP ss# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  A T/C SNP altering a TaqI restriction site located 10541 bp downstream of the termination codonof DRD2 gene. This SNP results in non-synonymous change Lysine(AAG) -> Glutamic acid(GAG) at aminoacid position 713 of ANKK1 gene.
Ancestral Allele:  Site Absent,T
Ancestral Allele Determine by: Digestion of PCR Product on primate DNA
Alleles:
Allele NameAllele SymbolDescription
TaqI Site Absent (A1=T)T5'-gctgggcgcctgcc T T GA ccagcacttt-3'
TaqI Site Present (A2=C)C5'-gctgggcgcctgcc T C GA ccagcacttt-3'

References:
- Chakrabarti CS, Roy M, Sengupta NK, Lalthantluanga R, Majumder PP. "Genetic relationships among some tribal groups inhabiting the north-eastern, eastern and sub-Himalayan regions of India". Ann Hum Genet 66:361-368. (2002) Online citation.

- Kidd KK, Pakstis AJ, Castiglione CM, Kidd JR, Speed WC, Goldman D, Knowler WC, Lu RB, Bonne-Tamir B. "DRD2 haplotypes containing the TaqI A1 allele: implications for alcoholism research". Alcohol. Clin. Exp. Res. 20:697-705. (1996) Online citation.

- Sawyer SL, Mukherjee N, Pakstis AJ, Feuk L, Kidd JR, Brookes AJ, Kidd KK. "Linkage disequilibrium patterns vary substantially among populations". Eur J Hum Genet 13:677-686. (2005) Online citation.

- Suarez BK, Parsian A, Hampe CL, Todd RD, Reich T, Cloninger CR. "Linkage disequilibria at the D2 dopamine receptor locus (DRD2) in alcoholics and controls". Genomics 19:12-20. (1994) 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