Hedgehog Signaling Pathway Database
 
Human Mutations - Extl2
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
          T > T 67 S   DBSNP:rs2207735      
          D > D 238 S   DBSNP:rs12028119      
intronic 101052155 C T forward           DBSNP:rs12039319      
intronic 101053104 C T reverse           DBSNP:rs3737581      
intronic 101054518 A G reverse           DBSNP:rs2295280      
intronic 101054671 A T forward           DBSNP:rs10493937      
intronic 101057114 C G forward           DBSNP:rs17448356      
intronic 101057777 A C forward           DBSNP:rs7519973      
intronic 101057992 C T reverse           DBSNP:rs4072843      
intronic 101057994 C T reverse           DBSNP:rs4072842      
intronic 101058273 C T forward           DBSNP:rs12135966      
intronic 101058311 C G forward           DBSNP:rs1040668      
intronic 101058511 C T forward           DBSNP:rs4316382      
intronic 101058698 A T forward           DBSNP:rs2038348      
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 101059049 A G forward           DBSNP:rs10493938    
intronic 101059436 A G reverse           DBSNP:rs754261    
intronic 101060121 A C forward           DBSNP:rs7543296    
intronic 101061549 G T forward           DBSNP:rs11166530    
intronic 101061930 C T forward           DBSNP:rs7549376    
intronic 101062007 G T forward           DBSNP:rs11804804    
intronic 101062327 C T forward           DBSNP:rs11809572    
intronic 101063682 C T forward           DBSNP:rs10218565    
intronic 101063728 C T forward           DBSNP:rs10218688    
Untranslated 101050108 A C reverse           DBSNP:rs10738    
Untranslated 101050345 A G reverse           DBSNP:rs8888    
Untranslated 101050503 C T reverse           DBSNP:rs3188491    
Untranslated 101066500 C T forward           DBSNP:rs12747459    
Untranslated 101067477 C T forward           DBSNP:rs11809476    
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 101068085 C G forward           DBSNP:rs12090979    
Untranslated 101068113 C T forward           DBSNP:rs12090983    
Untranslated 101069843 A C forward           DBSNP:rs12740435    
Untranslated 101072236 A G reverse           DBSNP:rs3737580    

Last updated 28-Aug-2006

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