Hedgehog Signaling Pathway Database
 
Human Mutations - gpc4
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          E > D 391 N   DBSNP:rs1129980      
          A > V 442 N   DBSNP:rs1048369      
intronic 132163610 G T forward           DBSNP:rs12860272      
intronic 132163626 C G forward           DBSNP:rs12860294      
intronic 132164528 A C forward           DBSNP:rs2073049      
intronic 132166478 G T forward           DBSNP:rs2076544      
intronic 132169224 C T forward           DBSNP:rs5975391      
intronic 132170089 G T forward           DBSNP:rs5977852      
intronic 132171264 A T forward           DBSNP:rs2073050      
intronic 132171778 A G forward           DBSNP:rs5975392      
intronic 132171975 A G forward           DBSNP:rs5975393      
intronic 132172005 C T forward           DBSNP:rs5977853      
intronic 132172034 A G forward           DBSNP:rs5975394      
intronic 132172301 C T forward           DBSNP:rs2266794      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132174187 G T forward           DBSNP:rs2266796      
intronic 132175179 A G forward           DBSNP:rs12395617      
intronic 132175214 C T forward           DBSNP:rs7883015      
intronic 132175306 A C reverse           DBSNP:rs4063990      
intronic 132176019 A G forward           DBSNP:rs12397050      
intronic 132176494 G T forward           DBSNP:rs11096365      
intronic 132176619 A T forward           DBSNP:rs6654274      
intronic 132179188 A G forward           DBSNP:rs12007460      
intronic 132179239 C T forward           DBSNP:rs7876957      
intronic 132179240 C T forward           DBSNP:rs7876958      
intronic 132181663 A G forward           DBSNP:rs2266797      
intronic 132181933 A G forward           DBSNP:rs6529572      
intronic 132182475 C T forward           DBSNP:rs7065880      
intronic 132183649 C G forward           DBSNP:rs7878818      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132184837 A T forward           DBSNP:rs7885152      
intronic 132184846 C G forward           DBSNP:rs12858891      
intronic 132184848 C G forward           DBSNP:rs12861450      
intronic 132185195 A G forward           DBSNP:rs16993043      
intronic 132185260 C T forward           DBSNP:rs5977855      
intronic 132186996 A T forward           DBSNP:rs12847575      
intronic 132187917 A G forward           DBSNP:rs11096366      
intronic 132188278 A G forward           DBSNP:rs7876864      
intronic 132188349 C T forward           DBSNP:rs7877996      
intronic 132188469 C G forward           DBSNP:rs1883664      
intronic 132188849 C T forward           DBSNP:rs17324335      
intronic 132189462 C T forward           DBSNP:rs5977857      
intronic 132189916 A G forward           DBSNP:rs12559770      
intronic 132190020 A T forward           DBSNP:rs2266800      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132191390 A C forward           DBSNP:rs12838380      
intronic 132191409 A C forward           DBSNP:rs12838394      
intronic 132191418 A C forward           DBSNP:rs12838403      
intronic 132191442 A G forward           DBSNP:rs7065655      
intronic 132191723 A T forward           DBSNP:rs12013696      
intronic 132191889 C T forward           DBSNP:rs12008379      
intronic 132193216 A C forward           DBSNP:rs2266801      
intronic 132193243 A T forward           DBSNP:rs2266802      
intronic 132193464 A G forward           DBSNP:rs2266803      
intronic 132193682 C T forward           DBSNP:rs2266804      
intronic 132193766 A G forward           DBSNP:rs2266805      
intronic 132193808 A G forward           DBSNP:rs2266806      
intronic 132193878 A T forward           DBSNP:rs6634926      
intronic 132194148 C G forward           DBSNP:rs12688492      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132197048 G T forward           DBSNP:rs2206621      
intronic 132197082 C T forward           DBSNP:rs2206622      
intronic 132197277 A G forward           DBSNP:rs2223639      
intronic 132198125 A G forward           DBSNP:rs5977859      
intronic 132199165 A G forward           DBSNP:rs2073051      
intronic 132199362 C T forward           DBSNP:rs5933299      
intronic 132200548 A G forward           DBSNP:rs6638076      
intronic 132200551 A G forward           DBSNP:rs6638077      
intronic 132200642 A G forward           DBSNP:rs2206623      
intronic 132200978 G T forward           DBSNP:rs7054808      
intronic 132201769 A G forward           DBSNP:rs6634927      
intronic 132206693 A C forward           DBSNP:rs5930614      
intronic 132206776 C T forward           DBSNP:rs4829755      
intronic 132206831 A G forward           DBSNP:rs5933300      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132207023 C T forward           DBSNP:rs6638078      
intronic 132207094 A G forward           DBSNP:rs5933301      
intronic 132207714 C T forward           DBSNP:rs5977860      
intronic 132209102 C T forward           DBSNP:rs10126243      
intronic 132209569 C T forward           DBSNP:rs10126402      
intronic 132212273 G T forward           DBSNP:rs6638079      
intronic 132212743 A C forward           DBSNP:rs2266807      
intronic 132214120 A T forward           DBSNP:rs7887720      
intronic 132214165 A G forward           DBSNP:rs6638080      
intronic 132214368 A G forward           DBSNP:rs6638081      
intronic 132215653 C T forward           DBSNP:rs2266808      
intronic 132217059 C T forward           DBSNP:rs12687736      
intronic 132219148 C T forward           DBSNP:rs17317322      
intronic 132219399 C T forward           DBSNP:rs12010313      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132221843 A G forward           DBSNP:rs6654275      
intronic 132222191 C G forward           DBSNP:rs6654665      
intronic 132222252 C G forward           DBSNP:rs6654666      
intronic 132223774 A C forward           DBSNP:rs5975399      
intronic 132224169 C T forward           DBSNP:rs10482425      
intronic 132225058 A G forward           DBSNP:rs5977862      
intronic 132227253 A C forward           DBSNP:rs12391728      
intronic 132227280 C G forward           DBSNP:rs12855639      
intronic 132227343 A G forward           DBSNP:rs12855978      
intronic 132227345 C G forward           DBSNP:rs12855979      
intronic 132227351 G T forward           DBSNP:rs12855984      
intronic 132227358 C G forward           DBSNP:rs12855995      
intronic 132227380 C G forward           DBSNP:rs12858534      
intronic 132227386 A G forward           DBSNP:rs2266809      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132229007 C T forward           DBSNP:rs12010529      
intronic 132231294 A C forward           DBSNP:rs6529573      
intronic 132231974 A C forward           DBSNP:rs6634929      
intronic 132232416 A G forward           DBSNP:rs2266810      
intronic 132233701 C T forward           DBSNP:rs12689549      
intronic 132233714 C T forward           DBSNP:rs5977865      
intronic 132235578 A G forward           DBSNP:rs6638085      
intronic 132236974 C T forward           DBSNP:rs12008330      
intronic 132237463 G T forward           DBSNP:rs4829756      
intronic 132237464 A T forward           DBSNP:rs4829757      
intronic 132238716 C T forward           DBSNP:rs5977866      
intronic 132239666 C T forward           DBSNP:rs5977867      
intronic 132241704 C T forward           DBSNP:rs12392555      
intronic 132242469 A T forward           DBSNP:rs6529574      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132244780 A G forward           DBSNP:rs12014514      
intronic 132248764 C T forward           DBSNP:rs2266811      
intronic 132248882 A G forward           DBSNP:rs7052355      
intronic 132252951 A T forward           DBSNP:rs17000447      
intronic 132253825 A T forward           DBSNP:rs5977868      
intronic 132255248 A G forward           DBSNP:rs6634930      
intronic 132255682 C T forward           DBSNP:rs16993044      
intronic 132255995 C T forward           DBSNP:rs5977869      
intronic 132256866 C G forward           DBSNP:rs6654669      
intronic 132257262 A G forward           DBSNP:rs12687533      
intronic 132257866 C G forward           DBSNP:rs6654670      
intronic 132258045 A G forward           DBSNP:rs2266812      
intronic 132258797 A G forward           DBSNP:rs5975400      
intronic 132258836 A C forward           DBSNP:rs12846882      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132262766 G T forward           DBSNP:rs5975401      
intronic 132263345 A G forward           DBSNP:rs7883960      
intronic 132263977 A C forward           DBSNP:rs12860413      
intronic 132266324 A T forward           DBSNP:rs12391003      
intronic 132266621 A T forward           DBSNP:rs5977870      
intronic 132267657 C T forward           DBSNP:rs12687754      
intronic 132268364 C T forward           DBSNP:rs9887206      
intronic 132268500 C T forward           DBSNP:rs9887288      
intronic 132268689 C G forward           DBSNP:rs6638087      
intronic 132268700 C T forward           DBSNP:rs6638088      
intronic 132268763 C T forward           DBSNP:rs6638089      
intronic 132268844 C T forward           DBSNP:rs6638090      
intronic 132269014 A G forward           DBSNP:rs12391127      
intronic 132270340 A G forward           DBSNP:rs2207815      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 132271626 A T forward           DBSNP:rs10126532      
intronic 132271673 A C forward           DBSNP:rs11796643      
intronic 132272626 A G forward           DBSNP:rs5977872      
intronic 132274018 G T forward           DBSNP:rs7063173      
intronic 132274258 C T forward           DBSNP:rs12156957      
untranslated 132274533 A G forward           DBSNP:rs2073288      
intronic                        

Last updated 28-Aug-2006

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