Full data view for gene IBSP

Information The variants shown are described using the NM_004967.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.64T>C r.(=) p.(=) Unknown g.88723669T>C - IBSP_000001 rs200500818 0.003876 2 516 5480 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.246+16A>G r.(=) p.(=) Unknown g.88727352A>G - IBSP_000002 rs188188897 0.001938 1 516 4993 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.246+124C>T r.(=) p.(=) Unknown g.88727460C>T - IBSP_000003 rs555781105 0.001946 1 514 2520 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.342T>C r.(=) p.(=) Unknown g.88731853T>C - IBSP_000004 rs374121175 0.001938 1 516 7589 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.405+28G>A r.(=) p.(=) Unknown g.88731944G>A - IBSP_000005 rs75328502 0.012 6 516 3438 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.405+81A>C r.(=) p.(=) Unknown g.88731997A>C - IBSP_000006 rs368683199 0.001984 1 504 1412 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.406-61C>T r.(=) p.(=) Unknown g.88732453C>T - IBSP_000007 rs4693183 0.764 336 440 1230 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.423T>C r.(=) p.(=) Unknown g.88732531T>C - IBSP_000008 rs4693878 0.793 406 512 3315 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.584G>A r.(?) p.(Gly195Glu) Unknown g.88732692G>A - IBSP_000009 rs1054627 0.308 159 516 8315 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.638A>G r.(?) p.(Asp213Gly) Unknown g.88732746A>G - IBSP_000010 rs13144371 0.8 413 516 9665 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.652G>A r.(?) p.(Gly218Arg) Unknown g.88732760G>A - IBSP_000011 rs746206406 0.001938 1 516 9543 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.655A>G r.(?) p.(Arg219Gly) Unknown g.88732763A>G - IBSP_000012 rs17013181 0.238 123 516 9808 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.766A>G r.(?) p.(Thr256Ala) Unknown g.88732874A>G - IBSP_000013 rs17013182 0.012 6 516 10361 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.803C>T r.(?) p.(Ala268Val) Unknown g.88732911C>T - IBSP_000014 rs1054628 0.174 90 516 11192 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.810A>T r.(?) p.(Glu270Asp) Unknown g.88732918A>T - IBSP_000015 rs1054629 0.306 158 516 11968 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.860G>A r.(?) p.(Gly287Glu) Unknown g.88732968G>A - IBSP_000016 rs141138203 0.00969 5 516 9968 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.915C>T r.(=) p.(=) Unknown g.88733023C>T - IBSP_000017 rs141863190 0.003876 2 516 9535 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*16T>G r.(=) p.(=) Unknown g.88733078T>G - IBSP_000018 rs80085887 0.007752 4 516 7505 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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