Hedgehog Signaling Pathway Database
 
Human Mutations - prkacb
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
          F > F 102 S   DBSNP:rs11552595      
          A > A 271 S   DBSNP:rs3729866      
intronic 84322995 C T forward           DBSNP:rs2684912      
intronic 84324019 C T forward           DBSNP:rs6576963      
intronic 84325280 C T forward           DBSNP:rs12129674      
intronic 84325477 C T forward           DBSNP:rs12752568      
intronic 84325486 A C reverse           DBSNP:rs2812449      
intronic 84325609 A G forward           DBSNP:rs7530485      
intronic 84325728 A G forward           DBSNP:rs12118723      
intronic 84326124 C T forward           DBSNP:rs10874431      
intronic 84327038 A G forward           DBSNP:rs1521519      
intronic 84329811 C T forward           DBSNP:rs9433161      
intronic 84331003 A T forward           DBSNP:rs2892828      
intronic 84331268 C T forward           DBSNP:rs12746303      
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 84333565 A G forward           DBSNP:rs4488053      
intronic 84334534 G T forward           DBSNP:rs903263      
intronic 84336325 C T forward           DBSNP:rs6696125      
intronic 84336914 A G forward           DBSNP:rs12128892      
intronic 84338122 A G forward           DBSNP:rs2812000      
intronic 84339764 G T forward           DBSNP:rs7515976      
intronic 84340676 C T forward           DBSNP:rs12129768      
intronic 84340721 G T reverse           DBSNP:rs2684915      
intronic 84341026 A T forward           DBSNP:rs12752859      
intronic 84341085 G T forward           DBSNP:rs12731933      
intronic 84341087 G T forward           DBSNP:rs12731935      
intronic 84341111 A C forward           DBSNP:rs12753033      
intronic 84341161 A T forward           DBSNP:rs12753168      
intronic 84341177 C G forward           DBSNP:rs12732075      
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 84341199 C G forward           DBSNP:rs12732084      
intronic 84341866 C T forward           DBSNP:rs12030564      
intronic 84342906 A G forward           DBSNP:rs2642182      
intronic 84343020 A G forward           DBSNP:rs17131044      
intronic 84343716 C T forward           DBSNP:rs11803989      
intronic 84344866 C T forward           DBSNP:rs7524898      
intronic 84347122 C T forward           DBSNP:rs12077806      
intronic 84347515 A G reverse           DBSNP:rs2812448      
intronic 84348824 G T forward           DBSNP:rs12565896      
intronic 84349198 A C forward           DBSNP:rs17131071      
intronic 84351647 A G forward           DBSNP:rs11163911      
intronic 84351651 A G forward           DBSNP:rs11163912      
intronic 84352712 G T forward           DBSNP:rs582201      
intronic 84352855 G T forward           DBSNP:rs12132002      
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 84353308 A G forward           DBSNP:rs6670362      
intronic 84353325 A C forward           DBSNP:rs2812001      
intronic 84355904 C T reverse           DBSNP:rs2812447      
intronic 84356529 C G forward           DBSNP:rs12086972      
intronic 84356610 A G forward           DBSNP:rs12082320      
intronic 84356676 A G forward           DBSNP:rs3729862      
intronic 84356774 A C forward           DBSNP:rs3729863      
intronic 84356804 A G forward           DBSNP:rs3729864      
intronic 84356967 A C forward           DBSNP:rs3729865      
intronic 84357287 A G forward           DBSNP:rs2037454      
intronic 84357576 A G forward           DBSNP:rs2037455      
intronic 84357726 A C forward           DBSNP:rs656223      
intronic 84360489 G T forward           DBSNP:rs1472704      
intronic 84360505 C T reverse           DBSNP:rs951487      
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 84360653 C T reverse           DBSNP:rs951488      
intronic 84363204 G T forward           DBSNP:rs11163913      
intronic 84363651 C G forward           DBSNP:rs12139683      
intronic 84366160 A T forward           DBSNP:rs6695851      
intronic 84367259 A G forward           DBSNP:rs12748859      
intronic 84367288 C T forward           DBSNP:rs12044964      
intronic 84368250 A T forward           DBSNP:rs12092953      
intronic 84369560 A T forward           DBSNP:rs955492      
intronic 84369853 A G forward           DBSNP:rs7513220      
intronic 84370612 A G forward           DBSNP:rs7547892      
intronic 84371150 A G forward           DBSNP:rs6661411      
intronic 84372024 A G forward           DBSNP:rs12047035      
intronic 84372501 A G forward           DBSNP:rs11163914      
intronic 84372632 A G forward           DBSNP:rs12090074      
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 84373809 C T reverse           DBSNP:rs599852      
intronic 84374238 A T forward           DBSNP:rs12142220      
intronic 84374685 C T reverse           DBSNP:rs2174186      
intronic 84374733 A C reverse           DBSNP:rs2134649      
intronic 84374962 C T reverse           DBSNP:rs2134648      
intronic 84375274 C G forward           DBSNP:rs12726319      
intronic 84376211 C T forward           DBSNP:rs12125649      
intronic 84376661 G T forward           DBSNP:rs12756327      
intronic 84376754 C T forward           DBSNP:rs643951      
intronic 84376762 C T forward           DBSNP:rs643964      
intronic 84376769 A G forward           DBSNP:rs643972      
intronic 84376836 C T forward           DBSNP:rs12756529      
intronic 84377989 C G forward           DBSNP:rs7364574      
intronic 84378133 A G forward           DBSNP:rs4907195      
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 84378537 C G forward           DBSNP:rs11804221      
intronic 84378800 C T forward           DBSNP:rs12058887      
intronic 84379473 C T forward           DBSNP:rs603939      
intronic 84381118 A G forward           DBSNP:rs12119791      
intronic 84381563 A G forward           DBSNP:rs7526584      
intronic 84382478 C T reverse           DBSNP:rs3768258      
intronic 84382605 A T forward           DBSNP:rs10782824      
intronic 84382837 A C forward           DBSNP:rs1057738      
intronic 84385934 A G forward           DBSNP:rs12122765      
intronic 84385972 C T forward           DBSNP:rs10874432      
intronic 84386881 C T forward           DBSNP:rs12026066      
intronic 84389289 C G forward           DBSNP:rs7532830      
intronic 84389768 A G forward           DBSNP:rs12403468      
intronic 84390192 A G forward           DBSNP:rs17131229      
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 84390299 A G forward           DBSNP:rs11802441      
intronic 84390439 C T forward           DBSNP:rs2134647      
intronic 84392031 C T forward           DBSNP:rs3729867      
intronic 84392048 G T forward           DBSNP:rs3729868      
intronic 84392219 A C reverse           DBSNP:rs1851257      
intronic 84393235 C T reverse           DBSNP:rs610373      
intronic 84394200 A G forward           DBSNP:rs970318      
intronic 84394526 C T forward           DBSNP:rs633253      
intronic 84395087 A G forward           DBSNP:rs17373239      
intronic 84395704 C G forward           DBSNP:rs642052      
intronic 84396355 C G forward           DBSNP:rs655181      
intronic 84398391 A G forward           DBSNP:rs2221360      
intronic 84398586 A T forward           DBSNP:rs1247058      
intronic 84399077 G T forward           DBSNP:rs7547471      
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 84399145 A C forward           DBSNP:rs12027198      
intronic 84399626 C T forward           DBSNP:rs12066967      
intronic 84400313 C T forward           DBSNP:rs12134584      
intronic 84400544 A C forward           DBSNP:rs1247060      
intronic 84400600 A G forward           DBSNP:rs12031621      
intronic 84400729 C G forward           DBSNP:rs1312886      
intronic 84400891 C T reverse           DBSNP:rs650629      
intronic 84400913 A T forward           DBSNP:rs12125249      
intronic 84400994 A T forward           DBSNP:rs1312888      
intronic 84401074 G T forward           DBSNP:rs12127902      
intronic 84401075 G T forward           DBSNP:rs12125314      
intronic 84401082 G T forward           DBSNP:rs12127903      
intronic 84401163 C T forward           DBSNP:rs12135562      
intronic 84401222 A G forward           DBSNP:rs6576695      
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 84401529 G T forward           DBSNP:rs787868      
intronic 84401621 C T forward           DBSNP:rs1085734      
intronic 84401709 C T forward           DBSNP:rs787869      
intronic 84401811 C T forward           DBSNP:rs12039822      
intronic 84401834 A G forward           DBSNP:rs787870      
intronic 84402278 A G forward           DBSNP:rs652489      
intronic 84402738 G T forward           DBSNP:rs11802352      
intronic 84403348 A G forward           DBSNP:rs11163916      
intronic 84403622 C G forward           DBSNP:rs12036564      
intronic 84403978 A C reverse           DBSNP:rs1357118      
intronic 84403978 G T forward           DBSNP:rs12125463      
intronic 84404731 A G forward           DBSNP:rs12070215      
intronic 84405165 G T forward           DBSNP:rs12126586      
intronic 84405181 C T forward           DBSNP:rs588518      
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 84405419 C T forward           DBSNP:rs11802582      
intronic 84405504 A G forward           DBSNP:rs589918      
intronic 84405691 G T forward           DBSNP:rs669205      
intronic 84405692 C T forward           DBSNP:rs668867      
intronic 84405769 A G forward           DBSNP:rs1007467      
intronic 84405890 A C reverse           DBSNP:rs2684917      
intronic 84406263 C T forward           DBSNP:rs2389717      
intronic 84407024 C T forward           DBSNP:rs787871      
intronic 84407031 A G forward           DBSNP:rs3932220      
intronic 84407034 A T forward           DBSNP:rs3932221      
intronic 84407080 A G forward           DBSNP:rs12069612      
intronic 84407087 A T forward           DBSNP:rs12069614      
intronic 84407182 C T forward           DBSNP:rs787872      
intronic 84407954 C T forward           DBSNP:rs1247061      
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 84408752 A G forward           DBSNP:rs7418338      
intronic 84408839 A G forward           DBSNP:rs1247063      
intronic 84409720 A G forward           DBSNP:rs12077291      
intronic 84409891 A T forward           DBSNP:rs12074841      
intronic 84409994 C T forward           DBSNP:rs12074892      
intronic 84410539 C T forward           DBSNP:rs12089148      
intronic 84410577 A C forward           DBSNP:rs12139513      
intronic 84410638 A G forward           DBSNP:rs1247064      
intronic 84410747 A G forward           DBSNP:rs11163918      
intronic 84410748 A G forward           DBSNP:rs11163919      
intronic 84410780 A G forward           DBSNP:rs1271384      
intronic 84410839 C T forward           DBSNP:rs1247065      
intronic 84412034 G T forward           DBSNP:rs11163920      
intronic 84412162 A G forward           DBSNP:rs11163921      
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 84412542 C T forward           DBSNP:rs602207      
intronic 84412586 C G forward           DBSNP:rs657603      
intronic 84412787 C T forward           DBSNP:rs11163923      
untranslated 84413231 A C forward           DBSNP:rs11552591      
untranslated 84413272 C T forward           DBSNP:rs600674      
untranslated 84413470 C G forward           DBSNP:rs616790      
untranslated 84413891 A T forward           DBSNP:rs11552592      
untranslated 84414491 A T forward           DBSNP:rs7528226      
untranslated 84414495 C T forward           DBSNP:rs17131308      
untranslated 84414871 C T forward           DBSNP:rs11552593      
untranslated 84414996 A G forward           DBSNP:rs11552594      
untranslated 84415971 A C forward           DBSNP:rs1051529      
untranslated 84416023 A C forward           DBSNP:rs1051544      
untranslated 84416118 C G forward           DBSNP:rs13376116      
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

Last updated 28-Aug-2006

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