Unique variants in gene NT5C2

Information The variants shown are described using the NM_012229.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-123+5501G>C - - g.103187735C>G - NT5C2_000012 rs10883843 0.3044 149 28 Admin
./. 1 - c.-122-3942T>G - - g.103185270A>C - NT5C2_000011 rs10786744 0.6882 156 156 Admin
./. 1 - c.101+9796G>A r.(=) p.(=) g.103165062C>T - NT5C2_000010 rs10509765 0.2515 105 33 Admin
./. 1 - c.101+14275T>C r.(=) p.(=) g.103160583A>G - NT5C2_000009 rs10883839 0.3235 152 33 Admin
./. 1 - c.101+14384T>C - - g.103160474A>G - NT5C2_000008 rs3977751 0.4221 159 63 Admin
./. 1 - c.102-16073T>C - - g.103155552A>G - NT5C2_000007 rs2148198 0.6853 154 156 Admin
./. 1 - c.102-10653T>C - - g.103150132A>G - NT5C2_000006 rs1163249 0.8088 102 223 Admin
./. 1 - c.102-6974G>A - - g.103146453C>T - NT5C2_000005 rs11191580 0.8912 56 274 Admin
./. 1 - c.175+1263G>A - - g.103138143C>T - NT5C2_000004 rs732998 0.8838 59 270 Admin
./. 1 - c.176-3067G>C r.(=) p.(=) g.103109773C>G - NT5C2_000003 rs11191561 0.7676 128 196 Admin
./. 1 - c.176-2574T>C - - g.103109280A>G - NT5C2_000002 rs11191560 0.1250 59 13 Admin
./. 1 - c.813+27G>A - - g.103095912C>T - NT5C2_000001 rs1926029 0.2868 163 15 Admin
./. 1 - c.813+419G>A - - g.103095520C>T - NT5C2_000018 rs11191554 0.1647 94 9 Admin
./. 1 - c.1159+249T>C - - g.103092890A>G - NT5C2_000017 rs3781281 0.6721 157 150 Admin
./. 1 - c.1159+478G>A r.(=) p.(=) g.103092661C>T - NT5C2_000016 rs3781282 0.6750 153 153 Admin
./. 1 - c.1272+62T>C - - g.103090874A>G - NT5C2_000015 rs3736922 0.5456 163 104 Admin
./. 1 - c.*286T>G r.(=) p.(=) g.103089386A>C - NT5C2_000014 rs12573221 0.0265 18 - Admin
./. 1 - c.*523G>A - - g.103089149C>T - NT5C2_000013 rs7916854 0.9735 14 323 Admin
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