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
14-site haplotypeSI000345MAtaxia telangiectasia mutated (includes complementation groups A, C and D)ATM
Synonyms:
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: GenBank sequence Record  
References: See References
Polymorphism Description:  The 14-site haplotype (ordered from left to right) is comprised of the Prior to 5'UTR t>a (at base 10182 in GenBank Accession Number U82828), IVS8-356 t>c (at base 34293 in GenBank Accession Number U82828), IVS19-1276 a>g (at base 57469 in GenBank Accession Number U82828), IVS21-77 t>c (at base 60136 in GenBank Accession Number U82828), IVS34+754 g>a (at base 85811 in GenBank Accession Number U82828), IVS46-257 a>c (at base 112721 in GenBank Accession Number U82828), IVS55+186 c>t (at base 121819 in GenBank Accession Number U82828), IVS57+3570 t>c (at base 127195 in GenBank Accession Number U82828), IVS58+997 g>a (at base 132032 in GenBank Accession Number U82828), IVS61-55 t>c (at base 142611 in GenBank Accession Number U82828), IVS62+60 g>a (at base 142789 in GenBank Accession Number U82828), IVS62+424 g>a (at base 143153 in GenBank Accession Number U82828), IVS62-973 a>c (at base 151964 in GenBank Accession Number U82828), and IVS62-694 c>a (at base 152243 in GenBank Accession Number U82828) sites.
Alleles:
Allele NameAllele SymbolDescription
1114 SNPs (ordered from left to right): ACTCTACTTCCCTC
101014 SNPs (ordered from left to right): ATTTCACTCCCCTC
111114 SNPs (ordered from left to right): ATTTCATCCTCCCC
121214 SNPs (ordered from left to right): TCTCTACTTCTTTC
131314 SNPs (ordered from left to right): TCTTCACTCTCCTC
141414 SNPs (ordered from left to right): TCTTCATCCTCCCC
151514 SNPs (ordered from left to right): TTCTCACTCTCCTA
161614 SNPs (ordered from left to right): TTTCTATCCTCCCC
171714 SNPs (ordered from left to right): TTTTCACCCTCCTC
181814 SNPs (ordered from left to right): TTTTCACCCTCTTC
191914 SNPs (ordered from left to right): TTTTCACTCCTTTC
2214 SNPs (ordered from left to right): ACTCTACTTCTTTC
202014 SNPs (ordered from left to right): TTTTCACTCTCCTA
212114 SNPs (ordered from left to right): TTTTCACTCTCCTC
222214 SNPs (ordered from left to right): TTTTCATCCTCCCC
2323
2424
3314 SNPs (ordered from left to right): ACTCTCCTTCTTTC
4414 SNPs (ordered from left to right): ACTTCACTCCTCTC
5514 SNPs (ordered from left to right): ACTTTACTCTCCTC
6614 SNPs (ordered from left to right): ACTTTACTTCCCTC
7714 SNPs (ordered from left to right): ACTTTACTTCTTTC
8814 SNPs (ordered from left to right): ATTCTACTTCTTTC
9914 SNPs (ordered from left to right): ATTCTCCTTCTTTC

References:
- Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL. "Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium". Am. J. Hum. Genet. 67:1437-1451. (2000) 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