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
Armadillo repeat gene deletes in velocardiofacial syndromeLO010926SARVCF22q11.21
Synonyms: FLJ35345 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM Locus Description    UniGene   GenBank Sequence   
References: See References
Locus Description: Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a recently characterized member of the catenin p120 (ctn) subfamily of the armadillo repeat proteins. ARVCF encodes a 962-amino acid protein that contains 2 motifs involved in protein-protein interactions: a coiled-coil domain near the N terminus and 10 tandem armadillo repeats in the central region. Members of this family play important roles in the formation of adherens junction complexes. ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein.
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
rs165815rs165815   1995947387
rs5993891rs5993891   1995974650
rs887199rs887199   1996195587
rs2239395rs2239395   1996220351
rs887204rs887204   1996706886
rs1058399rs1058399   1996754350
rs2240716rs2240716   1996969654
rs1990277rs1990277   1997050251
rs917478rs917478   1997282451
rs917479rs917479   1997320551
rs4819526rs4819526   1997403254
rs2012714rs2012714   1997764751
rs4819527rs4819527   1997802254
rs2073746rs2073746   1997855851
rs2238788rs2238788   1998030054
rs2238790rs2238790   1998301451
rs2238791rs2238791   1998311154
rs1034565rs1034565   1998421151
rs7285377rs7285377   1998720286
rs4819852rs4819852   1998816751
rs2073742rs2073742   1998964286
rs2073741rs2073741   1998989051
rs9617857rs9617857   1999078978
rs9618725rs9618725   1999106751
rs877118rs877118   1999657087
rs2531697rs2531697   1999949251
rs4819853rs4819853   1999976051
rs2079702rs2079702   2000100654
rs9605047rs9605047   2000284854
rs3788322rs3788322   2000604051

References:
- Ota T et al. "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat Genet. 36:40-5. (2004) Online citation.

- Strausberg RL etal. "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99:16899-903. (2002) 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