ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
C___8876467_10SI000882STaste receptor, type 2, member 38 TAS2R38
FstAvg Het# Populations Typed
0.1430.42577
Synonyms: Ala49Pro ; rs713598 ;
Frequency Display Formats:     
Estimated Heterozygosity: 
External Resources: dbSNP ss# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  C___8876467_10 is an ABI Assays-on-DemandTM SNP Genotyping Assay ID. This is a G-to-C substitution at nucleotide 145 of the gene TAS2R38, resulting in an alanine-to-proline substitution at codon 49 (A49P).

The alleles and the flanking sequence are those on the forward strand and the gene is on the complementary strand.


Alleles:
Allele NameAllele SymbolDescription
Codon 49 AlaC5'-agcacacaatcactgttgctcag TGC ctgcctcttcactacatcccaaaaa-3'
Codon 49 ProG5'-agcacacaatcactgttgctcag TGGctgcctcttcactacatcccaaaaa-3'

References:
- Davidson AC, Pakstis AJ, Speed WC, Bartoshuk L, Duffy V, Friedlaender J, Grigorenko EL, Kajuna SLJ, Karoma NJ, Kim JJ, Kungulilo S, Lu RB, Odunsi A, Okonofua F, Parnas J, Schulz LO, Snyder DJ, Zhukova OV, Kidd KK, Kidd JR. "No Evidence for balancing Selection at the TAS2R38 (PTC) Gene". Submitted

- Kim JJ, Verdu P, Pakstis AJ, Speed WC, Kidd JR and Kidd KK. "Use of Autosomal Loci for Clustering Individuals and Populations of East Asian Origin". Human Genetics 117:511-519. (2005) Online citation.

- Kim UK, Jorgenson E, Coon H, Leppert M, Risch N, Drayna D. "Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide". Science. 299:1221-5. (2003) Online citation.


© 2019 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