Hedgehog Signaling Pathway Database
 
Human Mutations - Stk36
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
          K > R 295 N   DBSNP:rs1863703      
          K > Q 295 N   DBSNP:rs2384951      
          R > W 477 N   DBSNP:rs16859180      
          R > Q 583 N   DBSNP:rs1344642      
          Q > P 638 N   DBSNP:rs6709303      
          R > Q 839 N   DBSNP:rs13023540      
          G > D 1003 N   DBSNP:rs1863704      
          R > Q 1112 N   DBSNP:rs12993599      
          A > A 1180 S   DBSNP:rs2241528      
intronic 219363524 G T forward           DBSNP:rs1344645      
intronic 219364304 A C forward           DBSNP:rs7604319      
intronic 219364742 C T forward           DBSNP:rs7578509      
intronic 219365967 A G forward           DBSNP:rs6732979      
intronic 219366561 C T forward           DBSNP:rs2556388      
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 219368352 A T forward           DBSNP:rs11681170      
intronic 219368479 C T forward           DBSNP:rs6718166      
intronic 219368672 C T forward           DBSNP:rs6436065      
intronic 219368782 A G forward           DBSNP:rs2710250      
intronic 219368938 C T forward           DBSNP:rs2710251      
intronic 219370607 A T forward           DBSNP:rs12471178      
intronic 219370814 C T forward           DBSNP:rs2303565      
intronic 219371294 A G forward           DBSNP:rs2912737      
intronic 219373947 A G forward           DBSNP:rs6723849      
intronic 219374501 A G forward           DBSNP:rs2912738      
intronic 219374665 A T forward           DBSNP:rs11894974      
intronic 219376541 A T forward           DBSNP:rs2433738      
intronic 219376549 A T reverse           DBSNP:rs2465100      
intronic 219376765 A G forward           DBSNP:rs6742574      
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 219376897 A G forward           DBSNP:rs11895139      
intronic 219378097 C T forward           DBSNP:rs2385066      
intronic 219378166 A G forward           DBSNP:rs1807165      
intronic 219378428 A T reverse           DBSNP:rs746119      
intronic 219378596 G T forward           DBSNP:rs4461253      
intronic 219379226 A G forward           DBSNP:rs7576129      
intronic 219379767 G T forward           DBSNP:rs11679333      
intronic 219380053 A T forward           DBSNP:rs7603129      
intronic 219380797 A G forward           DBSNP:rs1427444      
intronic 219381078 A C forward           DBSNP:rs1427445      
intronic 219381851 C T forward           DBSNP:rs2556391      
intronic 219383243 A G forward           DBSNP:rs2303566      
intronic 219384578 C T forward           DBSNP:rs2710256      
intronic 219384581 C T forward           DBSNP:rs2556392      
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 219386113 A G forward           DBSNP:rs10181498      
intronic 219386326 C G forward           DBSNP:rs6732777      
intronic 219386646 A G forward           DBSNP:rs6733350      
intronic 219387219 C T forward           DBSNP:rs1465535      
intronic 219388596 A G forward           DBSNP:rs731297      
intronic 219390253 A G forward           DBSNP:rs6748839      
intronic 219390424 C T forward           DBSNP:rs6706682      
intronic 219391105 C T forward           DBSNP:rs6707515      
intronic 219391395 C T forward           DBSNP:rs6710925      
intronic 219391657 C T forward           DBSNP:rs2710259      
intronic 219391763 C T forward           DBSNP:rs7562642      
untranslated 219362471 A C forward           DBSNP:rs6748412      
untranslated 219362680 A G forward           DBSNP:rs6720523      
untranslated 219362729 A G forward           DBSNP:rs2241527      
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
untranslated 219363009 C G forward           DBSNP:rs4309572