Hedgehog Signaling Pathway Database
 
Human Mutations - Slb
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
          R > H 953 N   DBSNP:rs704793      
          V > L 1204 N   DBSNP:rs7580439      
intronic 27581374 C T forward           DBSNP:rs10207700      
intronic 27581557 C T forward           DBSNP:rs11687215      
intronic 27581562 C T forward           DBSNP:rs11687217      
intronic 27581573 A C forward           DBSNP:rs11687219      
intronic 27581958 A G forward           DBSNP:rs11126999      
intronic 27582677 A G forward           DBSNP:rs11677409      
intronic 27582906 C T forward           DBSNP:rs7597145      
intronic 27582908 C T forward           DBSNP:rs7580759      
intronic 27585449 C T forward           DBSNP:rs1262430      
intronic 27585469 G T forward           DBSNP:rs1260343      
intronic 27586642 A G forward           DBSNP:rs13385980      
intronic 27586968 A G forward           DBSNP:rs965517      
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 27587439 C G forward           DBSNP:rs1728916      
intronic 27587441 C G forward           DBSNP:rs1728917      
intronic 27588992 A G forward           DBSNP:rs10166551      
intronic 27589320 A G forward           DBSNP:rs10177778      
intronic 27589342 A G forward           DBSNP:rs780104      
intronic 27589429 C T forward           DBSNP:rs6734392      
intronic 27589606 A G forward           DBSNP:rs6749203      
intronic 27590122 A G forward           DBSNP:rs780105      
intronic 27590336 A C forward           DBSNP:rs4410244      
intronic 27590470 A G forward           DBSNP:rs6547642      
intronic 27591570 A G forward           DBSNP:rs11887784      
intronic 27593048 A G forward           DBSNP:rs704792      
intronic 27593249 A C forward           DBSNP:rs780106      
intronic 27593648 A G forward           DBSNP:rs13399598      
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 27596608 C T forward           DBSNP:rs780108      
intronic 27596665 C T forward           DBSNP:rs780109      
intronic 27597039 A G forward           DBSNP:rs780110      
intronic 27597530 C G forward           DBSNP:rs4665980      
intronic 27598562 C T forward           DBSNP:rs6747190      
intronic 27598650 A C forward           DBSNP:rs1260344      
intronic 27599214 A G forward           DBSNP:rs11679494      
intronic 27600227 C G forward           DBSNP:rs1647275      
intronic 27600252 C T forward           DBSNP:rs1647276      
intronic 27601064 A G forward           DBSNP:rs11677539      
intronic 27601351 C T reverse           DBSNP:rs1406295      
intronic 27601550 C T forward           DBSNP:rs3845687      
intronic 27601769 A C forward           DBSNP:rs3902006      
intronic 27601791 C T forward           DBSNP:rs6744636      
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 27602154 A G forward           DBSNP:rs13010854      
intronic 27602157 A G forward           DBSNP:rs11679129      
intronic 27602642 C T forward           DBSNP:rs11904779      
intronic 27603239 A C forward           DBSNP:rs12464368      
intronic 27603865 C T forward           DBSNP:rs1728912      
intronic 27603912 A G forward           DBSNP:rs1647265      
intronic 27604282 A G forward           DBSNP:rs7562296      
intronic 27604624 A G forward           DBSNP:rs11127013      
intronic 27605136 C T forward           DBSNP:rs1647266      
intronic 27605381 A G forward           DBSNP:rs1728913      
intronic 27605684 C T forward           DBSNP:rs3845688      
intronic 27607035 C G forward           DBSNP:rs2052638      
intronic 27607082 A G forward           DBSNP:rs3932807      
intronic 27608388 C T forward           DBSNP:rs7596856      
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 27609327 A C forward           DBSNP:rs4665981      
intronic 27609994 C G reverse           DBSNP:rs780117      
intronic 27610185 A G reverse           DBSNP:rs780116      
intronic 27611873 C T forward           DBSNP:rs2272416      
intronic 27613374 C T forward           DBSNP:rs7579203      
intronic 27613677 G T reverse           DBSNP:rs780115      
intronic 27613990 C T reverse           DBSNP:rs780114      
intronic 27615146 C T reverse           DBSNP:rs1260345      
intronic 27617020 A G reverse           DBSNP:rs1260330      
intronic 27617088 A G reverse           DBSNP:rs1260329      
intronic 27618291 C T forward           DBSNP:rs2272417      
intronic 27619815 C T reverse           DBSNP:rs780091      
intronic 27621616 C T reverse           DBSNP:rs809059      
intronic 27622072 C T forward           DBSNP:rs13001266      
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 27623356 A G forward           DBSNP:rs11888096      
intronic 27623544 C T reverse           DBSNP:rs1260327      
intronic 27623671 A T forward           DBSNP:rs11904646      
intronic 27624059 C T forward           DBSNP:rs7583698      
untranslated 27578948 A G forward           DBSNP:rs4803      
untranslated 27578948 A G forward           DBSNP:rs11541994      
intronic                        
                         

Last updated 28-Aug-2006

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