Full data view for gene ACTN2

Information The variants shown are described using the NM_001103.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.126+3189A>G - - - Unknown g.236853288A>G dbSNP ACTN2_000001 rs697660 0.86486 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+5033A>G - - - Unknown g.236855132A>G dbSNP ACTN2_000002 rs3851907 0.97635 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+5089C>T - r.(=) p.(=) Unknown g.236855188C>T dbSNP ACTN2_000003 rs17648708 0.06419 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+6525A>C - r.(=) p.(=) Unknown g.236856624A>C dbSNP ACTN2_000004 rs707201 0.06757 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+10694A>C - - - Unknown g.236860793A>C dbSNP ACTN2_000005 rs10802554 0.09122 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+13732A>G - - - Unknown g.236863831A>G dbSNP ACTN2_000006 rs12736189 0.93581 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+14360C>T - r.(=) p.(=) Unknown g.236864459C>T dbSNP ACTN2_000007 rs3905125 0.45101 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+14921A>T - r.(=) p.(=) Unknown g.236865020A>T dbSNP ACTN2_000008 rs10802556 0.84797 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.126+15469A>G - - - Unknown g.236865568A>G dbSNP ACTN2_000009 rs707216 0.75338 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.127-14322A>G - - - Unknown g.236866836A>G dbSNP ACTN2_000010 rs16834213 0.92399 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.127-7854A>G - - - Unknown g.236873304A>G dbSNP ACTN2_000011 rs4659703 0.46453 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.241+431A>C - - - Unknown g.236881703A>C dbSNP ACTN2_000012 rs1366990 0.83277 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.242-410C>T - - - Unknown g.236881784C>T dbSNP ACTN2_000013 rs1366989 0.18581 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.361+438C>T - - - Unknown g.236882751C>T dbSNP ACTN2_000014 rs1652226 0.82939 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.362-244A>G - r.(=) p.(=) Unknown g.236883161A>G dbSNP ACTN2_000015 rs1773444 0.94088 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.378C>T - r.(=) p.(=) Unknown g.236883421C>T dbSNP ACTN2_000016 rs1341863 0.94764 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.448+195A>C - - - Unknown g.236883686A>C dbSNP ACTN2_000017 rs1341861 0.06757 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.536+369C>G - r.(=) p.(=) Unknown g.236889689C>G dbSNP ACTN2_000034 rs707207 0.12500 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.537-197A>G - r.(=) p.(=) Unknown g.236890781A>G dbSNP ACTN2_000035 rs1768056 0.95946 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.616-934C>T - - - Unknown g.236893599C>T dbSNP ACTN2_000018 rs819639 0.35980 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.698-1559A>G - - - Unknown g.236897376A>G dbSNP ACTN2_000019 rs707204 0.27872 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.783+22C>T - - - Unknown g.236899042C>T dbSNP ACTN2_000020 rs2288600 0.18919 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.784-404A>G - - - Unknown g.236900018A>G dbSNP ACTN2_000021 rs7542508 0.51858 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.877-784A>T - r.(=) p.(=) Unknown g.236901818A>T dbSNP ACTN2_000022 rs3768125 0.49324 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.877-238C>T - r.(=) p.(=) Unknown g.236902364C>T dbSNP ACTN2_000023 rs4659711 0.48649 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1107+123A>G - - - Unknown g.236902955A>G dbSNP ACTN2_000024 rs7544174 0.54899 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1107+959C>T - r.(=) p.(=) Unknown g.236903791C>T dbSNP ACTN2_000025 rs2385494 0.68412 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1255+464A>T - r.(=) p.(=) Unknown g.236906807A>T dbSNP ACTN2_000026 rs10925210 0.46284 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1515+268A>G - - - Unknown g.236911343A>G dbSNP ACTN2_000027 rs10802558 0.78041 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1516-673C>G - r.(=) p.(=) Unknown g.236911751C>G dbSNP ACTN2_000028 rs4659466 0.49155 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1516-566A>G - - - Unknown g.236911858A>G dbSNP ACTN2_000029 rs7518515 0.93412 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1516-367A>G - - - Unknown g.236912057A>G dbSNP ACTN2_000030 rs12048046 0.13682 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1516-205G>T - r.(=) p.(=) Unknown g.236912219G>T dbSNP ACTN2_000031 rs3818884 0.82432 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1516-138C>T - - - Unknown g.236912286C>T dbSNP ACTN2_000032 rs2297956 0.89696 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.1840-635C>T - - - Unknown g.236916612C>T dbSNP ACTN2_000033 rs10802560 0.22466 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
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