Hedgehog Signaling Pathway Database
 
Human Mutations - Sap18
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
          P > T 52 N   DBSNP:rs1804868      
          P > S 52 N   DBSNP:rs1804868      
          P > L 144 N   DBSNP:rs1804867      
          T > T 65 S   DBSNP:rs4620      
          T > T 65 S   DBSNP:rs3742221      
intronic 20612920 A G forward           DBSNP:rs2281914      
intronic 20613602 A G forward           DBSNP:rs7984429      
intronic 20613881 C G forward           DBSNP:rs9550707      
intronic 20613891 C T forward           DBSNP:rs12875984      
intronic 20613892 A G forward           DBSNP:rs12876513      
intronic 20613907 G T forward           DBSNP:rs12859506      
intronic 20613908 C T forward           DBSNP:rs12859507      
intronic 20613930 C T forward           DBSNP:rs12876119      
intronic 20613931 A C forward           DBSNP:rs12876623      
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 20614097 A G forward           DBSNP:rs9550708    
intronic 20615463 A C forward           DBSNP:rs1999098    
intronic 20615522 C T forward           DBSNP:rs17344661    
intronic 20617404 C T reverse           DBSNP:rs2148705    
intronic 20618868 C G forward           DBSNP:rs11147974    
intronic 20618930 A T forward           DBSNP:rs7981250    
intronic 20619220 C G forward           DBSNP:rs3742222    
Untranslated 20619507 A T forward           DBSNP:rs1804866    
Untranslated 20620190 C G forward           DBSNP:rs1046530    
Untranslated 20620262 A G forward           DBSNP:rs17062935    
Untranslated 20620407 A G forward           DBSNP:rs17062936    
Untranslated 20620532 C T forward           DBSNP:rs12862079    
Untranslated 20620557 A G forward           DBSNP:rs3088071    
Untranslated 20620557 A G forward           DBSNP:rs17344813    
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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