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BLM

From SNPedia

is agene
is mentioned by
Full nameBloom syndrome, RecQ helicase-like
Other namesRECQL3
EntrezGene641
PheGenI641
VariationViewer641
ClinVarBLM
GeneCardsBLM
dbSNP641
SADR641
HugeNav641
wikipediaBLM
googleBLM
gopubmedBLM
EVSBLM
HEFalMpBLM
MyGene2BLM
23andMeBLM
UniProtP54132
EnsemblENSG00000197299
OMIM604610
# SNPs55
 Max MagnitudeChromosome positionSummary
i400039691,310,153
rs113993962490,766,923
rs11852361090,782,869
rs137853152090,769,559
rs137853153490,794,254
rs148969222090,803,721
rs200389141090,761,015
rs222793590,782,869
rs238016590,797,765
rs253210590,812,255
rs367543012090,769,438
rs367543013090,750,040
rs367543014090,790,748
rs367543015090,760,145
rs367543016090,769,233
rs367543017090,798,257
rs367543018090,804,195
rs367543019090,769,519
rs367543020090,804,289
rs367543021090,804,335
rs367543022090,798,202
rs367543023090,790,712
rs367543024090,769,537
rs367543025090,794,344
rs367543026090,749,850
rs367543027090,749,543
rs367543028090,765,319
rs367543029090,794,311
rs367543030090,749,579
rs367543031090,809,232
rs367543032090,794,338
rs367543033090,803,637
rs367543034090,790,680
rs367543035090,749,825
rs367543036090,763,158
rs367543037090,798,234
rs367543038090,761,001
rs367543039090,782,909
rs367543040090,765,416
rs367543043090,760,917
rs40154990,813,274
rs587779884090,784,953
rs587779886090,794,359
rs587779888090,804,359
rs587783037090,803,577
rs730881428090,760,731
rs730881429090,760,758
rs746195311090,749,473
rs747281324090,763,098
rs780379121090,794,175
... further results

BLM or RECQL3 codes for a protein in the RecQ helicase family, helicase RecQ protein-like-3.

The BLM(Ash) frameshift mutation is common in Ashkenazi Jews(1%).

Over 70 mutations in BLM are associated with Bloom syndrome. Alterations in BLM activity affect genome stability. [1]