Full data view for gene SH3TC2

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

83 entries on 1 page. Showing entries 1 - 83.
Legend  

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.52+237G>A r.(=) p.(=) Unknown g.148442297C>T - SH3TC2_000083 rs62380066 0.12 62 516 2722 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.52+398C>T r.(=) p.(=) Unknown g.148442136G>A - SH3TC2_000082 rs74441961 0.001938 1 516 2311 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.73G>T r.(?) p.(Asp25Tyr) Unknown g.148431783C>A - SH3TC2_000081 rs10066882 0.003876 2 516 4308 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.151+11G>A r.(=) p.(=) Unknown g.148431694C>T - SH3TC2_000080 rs773004267 0.001938 1 516 6925 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.151+15_151+16del r.(=) p.(=) Unknown g.148431689_148431690del - SH3TC2_000079 rs569906096 0.001938 1 516 6373 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.152-46T>A r.(=) p.(=) Unknown g.148427598A>T - SH3TC2_000078 - 0.001938 1 516 6373 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.230G>A r.(?) p.(Arg77Gln) Unknown g.148427474C>T - SH3TC2_000077 rs756666549 0.001938 1 516 6623 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.279+80A>G r.(=) p.(=) Unknown g.148427345T>C - SH3TC2_000076 rs185075497 0.001938 1 516 7507 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.279+101C>T r.(=) p.(=) Unknown g.148427324G>A - SH3TC2_000075 rs77336339 0.005814 3 516 6760 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.279+145G>A r.(=) p.(=) Unknown g.148427280C>T - SH3TC2_000074 rs148402978 0.003876 2 516 4838 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.280-1458C>T r.(=) p.(=) Unknown g.148425659G>A - SH3TC2_000073 rs72835362 0.014 7 514 1890 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.280-1419C>T r.(=) p.(=) Unknown g.148425620G>A - SH3TC2_000072 rs116105968 0.005814 3 516 3394 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.280-1317T>A r.(=) p.(=) Unknown g.148425518A>T - SH3TC2_000071 rs250676 0.253 130 514 3744 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.280-1224C>A r.(=) p.(=) Unknown g.148425425G>T - SH3TC2_000070 rs145686462 0.003953 2 506 1199 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.386-24A>T r.(=) p.(=) Unknown g.148422424T>A - SH3TC2_000069 rs147593465 0.001946 1 514 2246 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.477T>A r.(=) p.(=) Unknown g.148422309A>T - SH3TC2_000068 rs77574155 0.003876 2 516 6742 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.512G>A r.(?) p.(Gly171Glu) Unknown g.148422274C>T - SH3TC2_000067 rs17722293 0.033 17 516 7412 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.529+47C>T r.(=) p.(=) Unknown g.148422210G>A - SH3TC2_000066 rs75417523 0.007752 4 516 6788 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.529+92T>C r.(=) p.(=) Unknown g.148422165A>G - SH3TC2_000065 rs142596521 0.005814 3 516 4357 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.529+115A>C r.(=) p.(=) Unknown g.148422142T>G - SH3TC2_000064 rs148456305 0.001938 1 516 3281 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.529+178C>T r.(=) p.(=) Unknown g.148422079G>A - SH3TC2_000063 rs17795277 0.086 43 498 1358 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.530-55C>T r.(=) p.(=) Unknown g.148421235G>A - SH3TC2_000062 rs115896566 0.001938 1 516 3363 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.645C>T r.(=) p.(=) Unknown g.148421065G>A - SH3TC2_000061 rs80227512 0.025 13 516 6535 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.689T>C r.(?) p.(Val230Ala) Unknown g.148421021A>G - SH3TC2_000060 rs148634904 0.001938 1 516 3786 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.732-32T>C r.(=) p.(=) Unknown g.148420272A>G - SH3TC2_000059 rs75793868 0.003876 2 516 6311 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.751C>T r.(?) p.(Pro251Ser) Unknown g.148420221G>A - SH3TC2_000058 rs144963732 0.001938 1 516 8002 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.805+103G>A r.(=) p.(=) Unknown g.148420064C>T - SH3TC2_000057 rs10054170 0.003891 2 514 2245 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1001+93del r.(=) p.(=) Unknown g.148417765del - SH3TC2_000056 rs534457131 0.107 55 516 3290 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1002-2925C>T r.(=) p.(=) Unknown g.148414175G>A - SH3TC2_000055 rs6873011 0.107 55 516 3290 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1002-2897C>T r.(=) p.(=) Unknown g.148414147G>A - SH3TC2_000054 rs557042166 0.001938 1 516 3344 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1135+59T>C r.(=) p.(=) Unknown g.148411058A>G - SH3TC2_000053 - 0.001938 1 516 5638 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1136-106G>A r.(=) p.(=) Unknown g.148408387C>T - SH3TC2_000052 rs10070304 0.001953 1 512 2585 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1136-62G>A r.(=) p.(=) Unknown g.148408343C>T - SH3TC2_000051 rs373131888 0.001938 1 516 4444 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1177+10G>A r.(=) p.(=) Unknown g.148408230C>T - SH3TC2_000050 rs139257109 0.003876 2 516 9345 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1178-54C>G r.(=) p.(=) Unknown g.148408171G>C - SH3TC2_000049 rs150851184 0.001938 1 516 9243 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1178C>T r.(?) p.(Ala393Val) Unknown g.148408117G>A - SH3TC2_000048 rs148321018 0.001938 1 516 8716 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1194T>C r.(=) p.(=) Unknown g.148408101A>G - SH3TC2_000047 rs1432793 0.417 215 516 8879 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1240G>A r.(?) p.(Val414Met) Unknown g.148408055C>T - SH3TC2_000046 rs138303846 0.001938 1 516 9118 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1319G>A r.(?) p.(Arg440His) Unknown g.148407976C>T - SH3TC2_000045 rs755748579 0.001938 1 516 10233 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1350G>A r.(=) p.(=) Unknown g.148407945C>T - SH3TC2_000044 rs17722227 0.019 10 516 10461 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1402G>T r.(?) p.(Ala468Ser) Unknown g.148407893C>A - SH3TC2_000043 rs6875902 0.202 104 516 13058 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1473C>T r.(=) p.(=) Unknown g.148407822G>A - SH3TC2_000042 rs144016931 0.001938 1 516 9952 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1587T>G r.(=) p.(=) Unknown g.148407708A>C - SH3TC2_000041 rs1432794 0.975 503 516 10183 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1788_1789insCTTCGTCGGCCCGATGGCGGCGGCGATGGAAGCCCGCGCCGAACAGGACAGCCGCATCTACGAATCGGTCAAGACC r.(?) p.(Ala597Leufs*33) Unknown g.148407506_148407507insGGTCTTGACCGATTCGTAGATGCGGCTGTCCTGTTCGGCGCGGGCTTCCATCGCCGCCGCCATCGGGCCGACGAAG - SH3TC2_000040 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1842C>T r.(=) p.(=) Unknown g.148407453G>A - SH3TC2_000039 rs138411915 0.003876 2 516 9532 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1862G>A r.(?) p.(Arg621His) Unknown g.148407433C>T - SH3TC2_000038 rs143032801 0.003876 2 516 9407 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2087A>G r.(?) p.(His696Arg) Unknown g.148407208T>C - SH3TC2_000037 rs17109261 0.003876 2 516 8425 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2107G>A r.(?) p.(Gly703Arg) Unknown g.148407188C>T - SH3TC2_000036 rs912282924 0.001938 1 516 8517 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2235T>G r.(=) p.(=) Unknown g.148407060A>C - SH3TC2_000035 rs78120278 0.021 11 516 7841 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2310C>T r.(=) p.(=) Unknown g.148406985G>A - SH3TC2_000034 rs142462049 0.001938 1 516 8379 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2322C>T r.(=) p.(=) Unknown g.148406973G>A - SH3TC2_000033 rs17795193 0.001938 1 516 8425 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2691C>G r.(?) p.(Asn897Lys) Unknown g.148406604G>C - SH3TC2_000032 rs73795753 0.005814 3 516 8442 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2868A>G r.(=) p.(=) Unknown g.148406427T>C - SH3TC2_000031 rs115507662 0.001938 1 516 8882 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2872+9G>A r.(=) p.(=) Unknown g.148406414C>T - SH3TC2_000030 rs76488338 0.016 8 516 8905 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2872+37A>G r.(=) p.(=) Unknown g.148406386T>C - SH3TC2_000029 rs17722209 0.145 75 516 9295 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2913C>T r.(=) p.(=) Unknown g.148406275G>A - SH3TC2_000028 rs13436308 0.001938 1 516 8768 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3054-174C>T r.(=) p.(=) Unknown g.148392471G>A - SH3TC2_000027 rs752989933 0.002008 1 498 2330 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3054-173G>T r.(=) p.(=) Unknown g.148392470C>A - SH3TC2_000026 rs115476463 0.006024 3 498 2331 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3054-65T>C r.(=) p.(=) Unknown g.148392362A>G - SH3TC2_000025 rs11954893 0.2 103 516 7109 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3315G>A r.(=) p.(=) Unknown g.148389845C>T - SH3TC2_000024 rs375970910 0.001938 1 516 7175 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3327+70C>T r.(=) p.(=) Unknown g.148389763G>A - SH3TC2_000023 rs1025476 0.349 180 516 4054 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3327+119T>G r.(=) p.(=) Unknown g.148389714A>C - SH3TC2_000022 rs17641073 0.033 17 516 1767 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3328-117C>T r.(=) p.(=) Unknown g.148388681G>A - SH3TC2_000021 rs73795736 0.005814 3 516 5530 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3328-88C>A r.(=) p.(=) Unknown g.148388652G>T - SH3TC2_000020 rs1222862130 0.001938 1 516 6293 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3362C>T r.(?) p.(Ala1121Val) Unknown g.148388530G>A - SH3TC2_000019 rs115577291 0.003876 2 516 8470 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3433G>C r.(?) p.(Ala1145Pro) Unknown g.148388459C>G - SH3TC2_000018 rs141715248 0.001938 1 516 7352 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3450_3451insTCGCGCATCGCCCCGAACTGGCGATCGCTGTCACCGTAGCTGAGCTGCGCCGCGGCGCTCGGATCG r.(?) p.(Leu1151_Leu1288delinsSerArgIleAlaProAsnTrpArgSerLeuSerPro) Unknown g.148388441_148388442insCGATCCGAGCGCCGCGGCGCAGCTCAGCTACGGTGACAGCGATCGCCAGTTCGGGGCGATGCGCGA - SH3TC2_000017 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3472G>A r.(?) p.(Val1158Ile) Unknown g.148388420C>T - SH3TC2_000016 rs55853803 0.017 9 516 6635 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3478+37G>C r.(=) p.(=) Unknown g.148388377C>G - SH3TC2_000015 rs191877271 0.001938 1 516 5015 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3478+39G>A r.(=) p.(=) Unknown g.148388375C>T - SH3TC2_000014 rs186159847 0.003876 2 516 4962 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3594A>C r.(=) p.(=) Unknown g.148386525T>G - SH3TC2_000013 rs6871030 0.357 184 516 8567 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3594A>G r.(=) p.(=) Unknown g.148386525T>C - SH3TC2_000012 rs6871030 0.095 49 516 8567 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3675+56C>T r.(=) p.(=) Unknown g.148386388G>A - SH3TC2_000011 rs576456698 0.002 1 500 1725 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3676-154C>T r.(=) p.(=) Unknown g.148384619G>A - SH3TC2_000010 rs190012969 0.002203 1 454 984 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3676-98C>G r.(=) p.(=) Unknown g.148384563G>C - SH3TC2_000009 rs76014357 0.029 14 490 1946 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3676-94C>A r.(=) p.(=) Unknown g.148384559G>T - SH3TC2_000008 rs1432799 0.047 22 472 2105 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3676-91_3676-90insCAAA r.(=) p.(=) Unknown g.148384555_148384556insTTTG - SH3TC2_000007 rs559569094 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3676-86_3676-85insAAAA r.(=) p.(=) Unknown g.148384550_148384551insTTTT - SH3TC2_000006 rs201226305 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3686A>T r.(?) p.(Asp1229Val) Unknown g.148384455T>A - SH3TC2_000005 rs146920285 0.003876 2 516 7813 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3795G>C r.(=) p.(=) Unknown g.148384346C>G - SH3TC2_000004 rs144873879 0.001938 1 516 6182 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.3813C>T r.(=) p.(=) Unknown g.148384328G>A - SH3TC2_000003 rs140985600 0.001938 1 516 5192 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*47C>T r.(=) p.(=) Unknown g.148384227G>A - SH3TC2_000002 rs79738100 0.003984 2 502 1386 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*929G>C r.(=) p.(=) Unknown g.148383345C>G - SH3TC2_000001 rs1432798 0.275 142 516 4395 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
Legend