Hedgehog Signaling Pathway Database
 
Human Mutations - udgh
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
          H > R 363 N   P:rs10010387      
          I > I 10 S   DBSNP:rs11544854      
          N > N 46 S   DBSNP:rs10025178      
          D > D 77 S   DBSNP:rs10019532      
          P > P 133 S   DBSNP:rs11544855      
          G > G 166 S   DBSNP:rs3186529      
          C > C 276 S   DBSNP:rs1129052      
          C > C 276 S   DBSNP:rs3177448      
          V >  V 494 S   DBSNP:rs3186533      
intronic 39324622 C T reverse           DBSNP:rs2608823      
intronic 39325154 G T forward           DBSNP:rs2687977      
intronic 39325384 C T forward           DBSNP:rs11735337      
intronic 39325653 G T forward           DBSNP:rs6847624      
intronic 39325762 A G forward           DBSNP:rs9995522      
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 39326835 C T forward           DBSNP:rs7667751      
intronic 39326871 A C forward           DBSNP:rs7667766      
intronic 39328419 A G forward           DBSNP:rs10004662      
intronic 39328710 A G reverse           DBSNP:rs1379819      
intronic 39329649 G T forward           DBSNP:rs4975019      
intronic 39330023 C T forward           DBSNP:rs6832089      
intronic 39330165 C T forward           DBSNP:rs11933326      
intronic 39330592 A C forward           DBSNP:rs3796518      
intronic 39330600 C T forward           DBSNP:rs3796519      
intronic 39330850 A G forward           DBSNP:rs3796520      
intronic 39330858 A G forward           DBSNP:rs3796521      
intronic 39331146 C G forward           DBSNP:rs12642866      
intronic 39331550 A C forward           DBSNP:rs16995337      
intronic 39331755 A G forward           DBSNP:rs6835269      
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 39332170 A G forward           DBSNP:rs10027310      
intronic 39332416 A G forward           DBSNP:rs6814996      
intronic 39332688 G T forward           DBSNP:rs11735116      
intronic 39332741 A G forward           DBSNP:rs6815780      
intronic 39333394 A G forward           DBSNP:rs6848201      
intronic 39333925 C T forward           DBSNP:rs6531722      
intronic 39335137 A G forward           DBSNP:rs7668172      
intronic 39335283 A G forward           DBSNP:rs7689564      
intronic 39335595 C T forward           DBSNP:rs7691493      
intronic 39336404 C T forward           DBSNP:rs10015698      
intronic 39336829 C T forward           DBSNP:rs16995344      
intronic 39336937 A G forward           DBSNP:rs17510526      
intronic 39337511 A T forward           DBSNP:rs11941220      
intronic 39337688 G T forward           DBSNP:rs7687329      
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 39338042 A G forward           DBSNP:rs10019290      
intronic 39338103 C T forward           DBSNP:rs10007732      
intronic 39338141 A T forward           DBSNP:rs10019401      
intronic 39338212 A G forward           DBSNP:rs10019428      
intronic 39338221 C T forward           DBSNP:rs10021786      
intronic 39338419 C T forward           DBSNP:rs16995351      
intronic 39338728 C T forward           DBSNP:rs10022384      
intronic 39338938 A G forward           DBSNP:rs13146459      
intronic 39338948 A G forward           DBSNP:rs6825569      
intronic 39339224 A G forward           DBSNP:rs10856844      
intronic 39340235 C T forward           DBSNP:rs10028146      
intronic 39340676 G T forward           DBSNP:rs6817264      
intronic 39340830 C T forward           DBSNP:rs10856845      
intronic 39341713 A T forward           DBSNP:rs13435734      
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 39342263 C T forward           DBSNP:rs10034296      
intronic 39342567 C T forward           DBSNP:rs12508542      
intronic 39343738 A T forward           DBSNP:rs9990888      
intronic 39343747 C T forward           DBSNP:rs11943400      
intronic 39343794 A G forward           DBSNP:rs10001159      
intronic 39344062 A C forward           DBSNP:rs11942253      
intronic 39344290 C T forward           DBSNP:rs4389588      
intronic 39344300 C T forward           DBSNP:rs4389589      
intronic 39344789 C T forward           DBSNP:rs7669821      
intronic 39345051 A G forward           DBSNP:rs11947783      
intronic 39345272 A G forward           DBSNP:rs13129117      
intronic 39345451 A G forward           DBSNP:rs10025073      
untranslated 39323080 C T forward           DBSNP:rs1450      
untranslated 39323180 C G forward           DBSNP:rs11931052      
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 39323403 A C reverse           DBSNP:rs3172642      
untranslated 39323652 C T reverse           DBSNP:rs1046573      
untranslated 39323682 C T reverse           DBSNP:rs11544853      
untranslated 39346175 C T forward           DBSNP:rs17510603      
untranslated 39346870 G T forward           DBSNP:rs16995354      
untranslated 39347190 A G forward           DBSNP:rs10856846      
untranslated 39347764 C G forward           DBSNP:rs10020176      
untranslated 39347815 A G forward           DBSNP:rs11736514      
untranslated 39347820 A G forward           DBSNP:rs10031615      
untranslated 39347889 C T forward           DBSNP:rs11732284      
untranslated 39347917 C G forward           DBSNP:rs11723807      
untranslated 39347965 A C forward           DBSNP:rs11733171      
untranslated 39348116 A C forward           DBSNP:rs11733220      
untranslated 39348131 A G forward           DBSNP:rs6829418      
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 39349207 A G forward           DBSNP:rs13129975      
untranslated 39349421 A C forward           DBSNP:rs10026148      
untranslated 39349587 C T forward           DBSNP:rs6531723      
untranslated 39349591 A G forward           DBSNP:rs6810844      
untranslated 39350639 C G reverse           DBSNP:rs2279037      
untranslated 39351318 A G forward           DBSNP:rs4975020      
untranslated 39351504 A T forward           DBSNP:rs13127236      
untranslated 39351505 C T forward           DBSNP:rs13146483      
untranslated 39351513 A T reverse           DBSNP:rs1129051      

Last updated 28-Aug-2006

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