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
Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homologLO000362LCSF1R55q33.2-q33.3
Synonyms: C-FMS ; FMS ; CSFR ; FIM2 ; CD115 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: This proto-oncogene c-fms (or FMS) encodes a transmembrane glycoprotein with tyrosine kinase activity that functions as the cell surface receptor for the macrophage colony stimulating factor (CSF-1 or M-CSFCSF1R), a cytokine which controls the production, differentiation, and function of macrophages. The CSF1R coding sequence consists of 21 small exons and heterogeneously sized introns, ranging from 6.3 kb to less than 0.1 kb in complexity (Hampe et al., 1989). Mutations in this gene have been associated with a predisposition to myeloid malignancy [PMID: 3484837].

This locus includes one of the 13 CODIS Core STR markers (SI000532K).
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
CSF1R (AGAT)n tetranucleotide repeat   149436200158
rs216137rs216137   14943654550
rs2163777rs2163777   14943668650
rs12516676rs12516676   14944004551
rs2282806rs2282806   14944247450
rs216143rs216143   14944414751
rs216148rs216148   14944648751
rs10079250rs10079250   14945013251
rs1549919rs1549919   14945345051
rs762681rs762681   14945431150
rs12651699rs12651699   14945491850
rs1076869rs1076869   14945502950
rs2855781rs2855781   14945677150
rs3733673rs3733673   14945749350
rs4705107rs4705107   14945841950
rs2569075rs2569075   14945882950
rs13188584rs13188584   14945957450
rs1986027rs1986027   14946017650
rs17652007rs17652007   14946034350
rs216123rs216123   14946055351
rs6870146rs6870146   14946191250
rs216124rs216124   14946200951
rs2237085rs2237085   14946524950
rs2237084rs2237084   14946549150
rs6874087rs6874087   14946766351
rs13362413rs13362413   14948087951
rs1465692rs1465692   14948153550
rs11743220rs11743220   14948314150
rs11743387rs11743387   14948376150
rs6865659rs6865659   14948577251
rs1010101rs1010101   14948911051
rs6874642rs6874642   14949229650
rs11740298rs11740298   14949245550

References:
- Hampe A, Shamoon BM, Gobet M, Sherr CJ, Galibert F. "Nucleotide sequence and structural organization of the human FMS proto-oncogene". Oncogene Res. 4:9-17. (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