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SACS

From SNPedia
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# SNPs115
 Max MagnitudeChromosome positionSummary
i5012578
rs1057516222023,339,837
rs1057516224023,354,536
rs1057516285023,339,116
rs1057516294023,339,405
rs1057516295023,337,556
rs1057516347023,331,336
rs1057516365023,355,383
rs1057516398023,332,691
rs1057516406023,355,334
rs1057516438023,336,352
rs1057516464023,334,045
rs1057516543023,354,931
rs1057516551023,340,680
rs1057516554023,341,692
rs1057516578023,333,012
rs1057516580023,338,979
rs1057516624023,341,006
rs1057516625023,355,422
rs1057516635023,337,424
rs1057516689023,336,737
rs1057516767023,340,810
rs1057516773023,333,022
rs1057516779023,339,781
rs1057516820023,358,470
rs1057516829023,341,245
rs1057516837023,375,261
rs1057516853023,335,009
rs1057516856023,332,794
rs1057516875023,334,498
rs1057516930023,339,578
rs1057516932023,337,118
rs1057516959023,336,088
rs1057516987023,355,474
rs1057517002023,333,072
rs1057517014023,336,015
rs1057517020023,335,142
rs1057517034023,340,961
rs1057517039023,340,520
rs1057517060023,334,786
rs1057517099023,338,091
rs1057517123023,330,592
rs1057517138023,338,131
rs1057517172023,338,407
rs1057517212023,335,263
rs1057517222023,336,761
rs1057517232023,332,145
rs1057517242023,355,527
rs1057517250023,333,740
rs1057517285023,341,652
... further results

The SACS gene on chromosome 13 encodes sacsin, a protein thought to be involved in the processing of the ataxin-1 protein.

Approximately 28 mutations in the SACS gene have been found to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay, commonly called ARSACS. Two mutations have been found frequently in affected people from Quebec GHR:

  • rs281865117: This mutation deletes a DNA building block (nucleotide) called thymine at position 6594 in the SACS gene (written as 6594delT). This mutation is found in more than 90 percent of people with ARSACS in Quebec.
  • rs281865118: This mutation replaces the nucleotide cytosine with the nucleotide thymine at position 5254 in the SACS gene (written as C5254T).