Hedgehog Signaling Pathway Database
 
Human Mutations - kif3a
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
          Q > Q 462 S   DBSNP:rs1129581      
          R > R 684 S   DBSNP:rs1129584      
intronic 132060310 C T forward           DBSNP:rs13355720      
intronic 132060397 C T forward           DBSNP:rs17623617      
intronic 132060705 C T reverse           DBSNP:rs2023823      
intronic 132061021 A G forward           DBSNP:rs6883504      
intronic 132061511 A G reverse           DBSNP:rs2237059      
intronic 132061859 C G forward           DBSNP:rs6885264      
intronic 132062245 C T reverse           DBSNP:rs2023822      
intronic 132062353 C G reverse           DBSNP:rs1468217      
intronic 132062487 A C forward           DBSNP:rs10455052      
intronic 132062703 C T forward           DBSNP:rs13357045      
intronic 132063298 A C forward           DBSNP:rs10073911      
intronic 132063471 A T forward           DBSNP:rs6865485      
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 132064388 A T reverse           DBSNP:rs1468215      
intronic 132064466 G T reverse           DBSNP:rs3756755      
intronic 132065333 C T forward           DBSNP:rs7736951      
intronic 132066098 A G reverse           DBSNP:rs3213639      
intronic 132067031 G T reverse           DBSNP:rs2285700      
intronic 132067968 A G forward           DBSNP:rs12186803      
intronic 132068273 A T forward           DBSNP:rs10062446      
intronic 132068587 A G forward           DBSNP:rs10069772      
intronic 132068894 C G forward           DBSNP:rs17166203      
intronic 132069335 A G reverse           DBSNP:rs3798132      
intronic 132069906 A G reverse           DBSNP:rs3798131      
intronic 132070045 A G reverse           DBSNP:rs3798130      
intronic 132070441 C G reverse           DBSNP:rs2299011      
intronic 132070639 A G reverse           DBSNP:rs2299010      
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 132070799 C T reverse           DBSNP:rs2299008      
intronic 132070931 C T reverse           DBSNP:rs2299007      
intronic 132071250 A C forward           DBSNP:rs17691077      
intronic 132071527 A G forward           DBSNP:rs17166208      
intronic 132071547 A G forward           DBSNP:rs12517135      
intronic 132071817 A G forward           DBSNP:rs10039170      
intronic 132071820 C T forward           DBSNP:rs11742623      
intronic 132071843 C T reverse           DBSNP:rs2237057      
intronic 132071898 A G forward           DBSNP:rs10045170      
intronic 132072637 C G reverse           DBSNP:rs2299006      
intronic 132073611 C T forward           DBSNP:rs12514685      
intronic 132073714 G T forward           DBSNP:rs10036532      
intronic 132074064 A G forward           DBSNP:rs4705964      
intronic 132074489 C T forward           DBSNP:rs7737031      
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 132075147 C T forward           DBSNP:rs10793813      
intronic 132075774 C G forward           DBSNP:rs6864396      
intronic 132075870 A G forward           DBSNP:rs6864565      
intronic 132076522 A G forward           DBSNP:rs6869202      
intronic 132076926 A G reverse           DBSNP:rs2897442      
intronic 132076961 A G forward           DBSNP:rs4425499      
intronic 132077015 A G reverse           DBSNP:rs1080001      
intronic 132077154 A G forward           DBSNP:rs4266392      
intronic 132077688 A G forward           DBSNP:rs10477742      
intronic 132078441 C T forward           DBSNP:rs17716226      
intronic 132078591 C T forward           DBSNP:rs17166215      
intronic 132081146 A C forward           DBSNP:rs12653226      
intronic 132082975 C T forward           DBSNP:rs11957172      
intronic 132083026 A G forward           DBSNP:rs4705965      
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 132084046 G T reverse           DBSNP:rs2074529      
intronic 132084773 G T reverse           DBSNP:rs2051809      
intronic 132085488 C T reverse           DBSNP:rs2299005      
intronic 132085737 A G reverse           DBSNP:rs2299004      
intronic 132086195 A G reverse           DBSNP:rs2299003      
intronic 132086365 A G forward           DBSNP:rs7734673      
intronic 132086378 C T forward           DBSNP:rs7717027      
intronic 132086597 A T forward           DBSNP:rs6896296      
intronic 132086744 C T forward           DBSNP:rs7735429      
intronic 132088397 A T forward           DBSNP:rs13175829      
intronic 132088399 A T forward           DBSNP:rs10052500      
intronic 132088448 A T forward           DBSNP:rs10052512      
intronic 132088482 A C forward           DBSNP:rs10074523      
intronic 132090983 A C forward           DBSNP:rs6883468      
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 132091459 A T reverse           DBSNP:rs3798129      
intronic 132092200 A G reverse           DBSNP:rs2406411      
intronic 132093779 A G reverse           DBSNP:rs2406410      
intronic 132095375 C G forward           DBSNP:rs10900810      
intronic 132096100 A G forward           DBSNP:rs13190398      
intronic 132096105 A G reverse           DBSNP:rs2107219      
intronic 132097605 A G forward           DBSNP:rs9327638      
intronic 132097638 A G forward           DBSNP:rs9784675      
intronic 132097746 G T forward           DBSNP:rs9784600      
intronic 132098141 C T forward           DBSNP:rs7732520      
intronic 132098232 C G forward           DBSNP:rs7732667      
intronic 132100335 C T forward           DBSNP:rs13156150      
intronic 132100812 C G reverse           DBSNP:rs2277066      
intronic 132100901 C T reverse           DBSNP:rs2277065      
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 132059921 C T forward           DBSNP:rs17166194      

Last updated 28-Aug-2006

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