Full data view for gene SH3TC2

Information The variants shown are described using the NM_024577.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.52+841T>C r.(=) p.(=) Unknown g.149062130A>G - SH3TC2_000025 rs12513554 0.9515 25 310 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.52+1351T>C - - Unknown g.149061620A>G - SH3TC2_000024 rs36045 0.8162 105 224 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.52+2896G>A r.(=) p.(=) Unknown g.149060075C>T - SH3TC2_000023 rs40521 0.7162 139 173 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.52+3732C>A r.(=) p.(=) Unknown g.149059239G>T - SH3TC2_000022 rs183140 0.2882 142 27 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.52+3938T>C - - Unknown g.149059033A>G - SH3TC2_000021 rs250674 0.7632 117 200 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.52+3970T>G - - Unknown g.149059001A>C - SH3TC2_000020 rs250675 0.8162 97 228 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.52+5149G>A - - Unknown g.149057822C>T - SH3TC2_000019 rs1422581 0.7647 118 200 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.53-4891G>C - - Unknown g.149057131C>G - SH3TC2_000018 rs10061897 0.9324 32 300 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.53-3148T>A r.(=) p.(=) Unknown g.149055388A>T - SH3TC2_000017 rs250679 0.7029 143 167 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.53-1128C>A - - Unknown g.149053368G>T - SH3TC2_000016 rs40525 0.7221 139 175 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.152-1451G>A - - Unknown g.149049440C>T - SH3TC2_000015 rs36081 0.5324 156 102 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1001+756G>C - - Unknown g.149037539C>G - SH3TC2_000014 rs43147 0.7706 126 198 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1001+907T>C - - Unknown g.149037388A>G - SH3TC2_000013 rs17795259 0.1382 72 11 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1001+1182T>C - - Unknown g.149037113A>G - SH3TC2_000012 rs17109282 0.7706 110 206 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1135+1353G>A - - Unknown g.149030201C>T - SH3TC2_000011 rs1864950 0.9000 54 278 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1195T>C r.(?) p.(Phe399Leu) Unknown g.149028537A>G - SH3TC2_000010 rs1432793 0.4338 163 66 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1351T>C - - Unknown g.149028381A>G - SH3TC2_000009 rs17722227 0.6956 161 155 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2872+38T>C - - Unknown g.149026822A>G - SH3TC2_000008 rs17722209 0.1500 82 10 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3053+2246G>A r.(=) p.(=) Unknown g.149024326C>T - SH3TC2_000007 rs6580591 0.6132 139 138 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3054-1649G>A - - Unknown g.149014383C>T - SH3TC2_000006 rs1549906 0.5515 165 104 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3204+1008T>C r.(=) p.(=) Unknown g.149011576A>G - SH3TC2_000005 rs9687065 0.1544 79 13 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3205-888T>C - - Unknown g.149011280A>G - SH3TC2_000004 rs1432800 0.7941 114 212 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3205-339T>C - - Unknown g.149010731A>G - SH3TC2_000003 rs7704297 0.1471 84 8 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.3327+120T>G r.(=) p.(=) Unknown g.149010150A>C - SH3TC2_000002 rs17641073 0.0426 23 3 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*1640G>A r.(=) p.(=) Unknown g.149003071C>T - SH3TC2_000001 rs1007400 0.7721 119 202 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*2398G>A - - Unknown g.149002313C>T - SH3TC2_000034 rs17722155 0.0471 26 3 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*3078G>A - - Unknown g.149001633C>T - SH3TC2_000033 rs1045942 0.4588 160 76 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*3197T>C - - Unknown g.149001514A>G - SH3TC2_000032 rs3763022 0.3118 134 39 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*4720G>C - - Unknown g.148999991C>G - SH3TC2_000031 rs6885467 0.1426 79 9 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*14622T>G - - Unknown g.148990089A>C - SH3TC2_000030 rs17795097 0.8603 79 252 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*14895G>A - - Unknown g.148989816C>T - SH3TC2_000029 rs17109192 0.0191 7 3 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*16632T>C - - Unknown g.148988079A>G - SH3TC2_000028 rs4705303 0.4662 163 77 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*19041T>C - - Unknown g.148985670A>G - SH3TC2_000027 rs930205 0.5897 149 125 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*19920T>C - - Unknown g.148984791A>G - SH3TC2_000026 rs2217638 0.7926 115 211 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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