Full data view for gene HK1

Information The variants shown are described using the NM_000188.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.63+4616C>T - - Unknown g.69323626C>T - HK1_000001 rs16926245 0.9559 24 312 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.64-10781G>T - - Unknown g.69333046G>T - HK1_000002 rs12220752 0.1221 73 5 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.64-5389A>C - - Unknown g.69338438A>C - HK1_000003 rs906216 0.5971 159 123 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.64-3671A>G - - Unknown g.69340156A>G - HK1_000004 rs7072268 0.5132 178 85 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.64-2858A>G r.(=) p.(=) Unknown g.69340969A>G - HK1_000005 rs16926249 0.6235 50 186 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.64-935A>T - - Unknown g.69342892A>T - HK1_000006 rs16926252 0.8632 41 272 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.77C>G - - Unknown g.69343840C>G - HK1_000007 rs1133189 0.6647 142 154 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.226+2708A>G r.(=) p.(=) Unknown g.69346697A>G - HK1_000008 rs16926253 0.0779 33 9 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.226+5952G>T - - Unknown g.69349941G>T - HK1_000009 rs10823349 0.0985 59 4 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.227-6811G>T - - Unknown g.69353086G>T - HK1_000010 rs10998738 0.3691 152 49 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.227-5666A>G - - Unknown g.69354231A>G - HK1_000011 rs11596587 0.8838 64 268 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.227-2551C>T - - Unknown g.69357346C>T - HK1_000012 rs7076745 0.2603 129 24 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.227-542A>G - - Unknown g.69359355A>G - HK1_000029 rs7095140 0.8941 55 276 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.227-446A>G - - Unknown g.69359451A>G - HK1_000030 rs7079157 0.1765 100 10 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.376-1827A>T - - Unknown g.69362956A>T - HK1_000031 rs10733851 0.6044 166 122 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.376-1413C>T - - Unknown g.69363370C>T - HK1_000025 rs10998744 0.9074 55 280 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.376-902A>G r.(=) p.(=) Unknown g.69363881A>G - HK1_000026 rs3829183 0.6603 163 142 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.376-761C>T - - Unknown g.69364022C>T - HK1_000027 rs11599150 0.1000 55 6 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.479A>G r.(?) p.(Gln160Arg) Unknown g.69364886A>G - HK1_000028 rs2228284 0.0265 16 1 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.875+836G>T - - Unknown g.69370460G>T - HK1_000023 rs4589168 0.9471 24 309 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.875+2257A>G - - Unknown g.69371881A>G - HK1_000024 rs7917338 0.1647 88 12 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.875+2296A>G - - Unknown g.69371920A>G - HK1_000018 rs1900466 0.0353 22 1 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.875+2868C>T - - Unknown g.69372492C>T - HK1_000019 rs7921170 0.1412 75 10 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.875+3021C>T r.(=) p.(=) Unknown g.69372645C>T - HK1_000020 rs11596868 0.9250 49 289 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.876-300A>G r.(=) p.(=) Unknown g.69376634A>G - HK1_000021 rs10128513 0.0618 28 7 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1840-594C>T r.(=) p.(=) Unknown g.69385729C>T - HK1_000022 rs1867971 0.6779 145 157 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1935+699A>G - - Unknown g.69387117A>G - HK1_000014 rs10823356 0.6044 157 126 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1936-795A>G - - Unknown g.69388402A>G - HK1_000015 rs10998754 0.6176 146 137 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2036-936C>T - - Unknown g.69391189C>T - HK1_000016 rs7904932 0.0765 42 5 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2537A>G - - Unknown g.69398756A>G - HK1_000017 rs10998760 0.9824 10 328 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2610-821A>G r.(=) p.(=) Unknown g.69400170A>G - HK1_000013 rs12244847 0.0721 39 5 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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