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

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) LO000463NCOL3A122q31-q32.3
Synonyms:
Sites List: 
See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: 
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)
dbSNP rs#
(Navigates to dbSNP
reference page)
Chr-PositionStatus# Populations
typed
COL3A1 Alu insertion   18956220361
rs17358566rs17358566   18983799550
rs7607614rs7607614   18984105250
rs1516454rs1516454   18984400051
rs13425379rs13425379   18984459950
rs1914037rs1914037   18984551551
rs17292943rs17292943   18984730050
rs2056156rs2056156   18984846850
rs3106796rs3106796   18984977370
rs13306275rs13306275   18985516650
rs3736487rs3736487   18985594351
rs7579903rs7579903   18986209751
rs11902058rs11902058   18986280850
rs3765160rs3765160   18986838150
rs13028444rs13028444   18987613850
rs10497696rs10497696   18987751250
rs7596514rs7596514   18987876969
rs4667257rs4667257   18988081051

References:
- Janeczko RA, Ramirez F. "Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen". Nucleic Acids Res 17:6742. (1989)
Online citation.

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© 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