Full data view for gene ATXN3

Information The variants shown are described using the NM_004993.5 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.24+841T>C - r.(=) p.(=) Unknown g.92572032A>G dbSNP ATXN3_000004 rs17127945 0.17399 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.24+894G>A - r.(=) p.(=) Unknown g.92571979C>T dbSNP ATXN3_000003 rs1956416 0.29392 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.25-4687T>C - r.(=) p.(=) Unknown g.92567869A>G dbSNP ATXN3_000002 rs10150904 0.30068 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.25-3801T>C - r.(=) p.(=) Unknown g.92566983A>G dbSNP ATXN3_000001 rs2402110 0.27365 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.25-2261G>A - r.(=) p.(=) Unknown g.92565443C>T dbSNP ATXN3_000010 rs8009033 0.25676 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.388-1450T>C - r.(=) p.(=) Unknown g.92556611A>G dbSNP ATXN3_000009 rs8008215 0.36993 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.388-894G>A - - - Unknown g.92556055C>T dbSNP ATXN3_000008 rs17807815 0.90541 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.476-2470T>C - - - Unknown g.92552072A>G dbSNP ATXN3_000007 rs1072957 0.24831 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.476-2460T>C - r.(=) p.(=) Unknown g.92552062A>G dbSNP ATXN3_000006 rs1072958 0.25000 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.476-1727G>A - - - Unknown g.92551329C>T dbSNP ATXN3_000005 rs8020781 0.73311 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.873-3943C>A - - - Unknown g.92541340G>T dbSNP ATXN3_000020 rs10146249 0.25507 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.873-3825T>G - - - Unknown g.92541222A>C dbSNP ATXN3_000019 rs11850101 0.73986 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.873-3700G>A - - - Unknown g.92541097C>T dbSNP ATXN3_000018 rs10145950 0.74831 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.873-3564G>C - - - Unknown g.92540961C>G dbSNP ATXN3_000017 rs10146087 0.29561 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.991+320T>C - - - Unknown g.92536959A>G dbSNP ATXN3_000016 rs12588287 0.23311 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.991+2364T>C - - - Unknown g.92534915A>G dbSNP ATXN3_000015 rs8004149 0.73480 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.991+3165T>C - r.(=) p.(=) Unknown g.92534114A>G dbSNP ATXN3_000014 rs10140469 0.25338 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*113C>A - r.(=) p.(=) Unknown g.92530551G>T dbSNP ATXN3_000013 rs10151135 0.10304 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*151G>A - r.(=) p.(=) Unknown g.92530513C>T dbSNP ATXN3_000012 rs709930 0.24324 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.*382T>G - - - Unknown g.92530282A>C dbSNP ATXN3_000011 rs910369 0.74324 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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