Full data view for gene IBTK

Information The variants shown are described using the NM_015525.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.1427-811T>C - - - Unknown g.82926778A>G dbSNP IBTK_000005 rs7743511 0.20270 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2509+1517G>A - - - Unknown g.82919014C>T dbSNP IBTK_000006 rs9344258 0.61993 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3575+1093T>C - - - Unknown g.82899697A>G dbSNP IBTK_000004 rs9359515 0.79730 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3576-4127G>A - - - Unknown g.82895872C>T dbSNP IBTK_000003 rs9361896 0.78547 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3725+783G>C - r.(=) p.(=) Unknown g.82890813C>G dbSNP IBTK_000002 rs9361895 0.27703 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.3924G>A - r.(=) p.(=) Unknown g.82882103C>T dbSNP IBTK_000001 rs16893967 0.00845 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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