Hedgehog Signaling Pathway Database
 
Human Mutations - gpc1
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
          E > * 74 N   DBSNP:rs11558615      
          M > T 99 N   DBSNP:rs6717362      
          S > G 500 N   DBSNP:rs2228331      
          R > R 153 S   DBSNP:rs1042829      
          P > P 353 S   DBSNP:rs2229458      
          P > P 353 S   DBSNP:rs13001312      
          S > S 380 S   DBSNP:rs2228327      
          D > D 431 S   DBSNP:rs2228329      
          D > D 483 S   DBSNP:rs1126920      
          D > D 483 S   DBSNP:rs11892101      
          G > G 485 S   DBSNP:rs2228330      
          G > G 485 S   DBSNP:rs10183272      
          G > G 526 S   DBSNP:rs1042841      
intronic 241095517 C T forward           DBSNP:rs2352823      
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 241095714 A C forward           DBSNP:rs13026820      
intronic 241096610 A G forward           DBSNP:rs12467792      
intronic 241097650 C T reverse           DBSNP:rs4553824      
intronic 241097740 A G reverse           DBSNP:rs4311058      
intronic 241098649 A G forward           DBSNP:rs10184291      
intronic 241099134 C T reverse           DBSNP:rs4558582      
intronic 241099296 A G forward           DBSNP:rs7570292      
intronic 241101429 A G forward           DBSNP:rs10194112      
intronic 241101538 C T forward           DBSNP:rs10211061      
intronic 241101580 C T forward           DBSNP:rs10211085      
intronic 241101639 A C forward           DBSNP:rs6718152      
intronic 241101731 C T forward           DBSNP:rs6718278      
intronic 241101866 A G forward           DBSNP:rs6706807      
intronic 241102073 A G forward           DBSNP:rs7577243      
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 241102325 A G forward           DBSNP:rs7577592      
intronic 241102334 C T forward           DBSNP:rs7572266      
intronic 241102336 C T forward           DBSNP:rs7580870      
intronic 241102610 C G forward           DBSNP:rs6722129      
intronic 241103271 C T forward           DBSNP:rs7575970      
intronic 241103536 A G forward           DBSNP:rs10167614      
intronic 241103623 A G forward           DBSNP:rs10933602      
intronic 241103724 C T forward           DBSNP:rs10933603      
intronic 241103957 A G forward           DBSNP:rs10933604      
intronic 241104000 C T forward           DBSNP:rs11676749      
intronic 241104517 A G forward           DBSNP:rs7569539      
intronic 241105303 C T forward           DBSNP:rs11674983      
intronic 241105466 C G reverse           DBSNP:rs4676438      
intronic 241105574 G T forward           DBSNP:rs11685653      
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 241105605 A G forward           DBSNP:rs13409716      
intronic 241105671 A G forward           DBSNP:rs11692341      
intronic 241105777 A G forward           DBSNP:rs13424854      
intronic 241105813 A G forward           DBSNP:rs7589322      
intronic 241106252 A G forward           DBSNP:rs7576734      
intronic 241106320 C T forward           DBSNP:rs10207602      
intronic 241106342 A G forward           DBSNP:rs7576849      
intronic 241106400 A G forward           DBSNP:rs11902723      
intronic 241106862 A G forward           DBSNP:rs11687369      
intronic 241106869 C T forward           DBSNP:rs11691816      
intronic 241107329 G T forward           DBSNP:rs13034612      
intronic 241107845 C T forward           DBSNP:rs12990815      
intronic 241107859 A C forward           DBSNP:rs13034395      
intronic 241108149 A G forward           DBSNP:rs7599776      
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 241108157 A C reverse           DBSNP:rs4676357      
intronic 241108200 C T forward           DBSNP:rs7594508      
intronic 241108262 A G forward           DBSNP:rs6734609      
intronic 241108847 G T reverse           DBSNP:rs4676356      
intronic 241108971 A T forward           DBSNP:rs2844      
intronic 241109209 A G forward           DBSNP:rs13421123      
intronic 241109992 A G forward           DBSNP:rs3828334      
intronic 241110017 C G forward           DBSNP:rs3749127      
intronic 241110506 A G reverse           DBSNP:rs3828336      
intronic 241111015 C G forward           DBSNP:rs1320130      
intronic 241112015 A G forward           DBSNP:rs13431676      
intronic 241112481 C T reverse           DBSNP:rs4268920      
intronic 241112558 A G reverse           DBSNP:rs4423588      
intronic 241113271 C T forward           DBSNP:rs13010969      
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 241113912 A G forward           DBSNP:rs12997581      
intronic 241115343 A G forward           DBSNP:rs12695019      
intronic 241115493 C T forward           DBSNP:rs2292832      
intronic 241115746 C G forward           DBSNP:rs11693260      
intronic 241116755 A G forward           DBSNP:rs10933605      
intronic 241116830 G T forward           DBSNP:rs11680522      
intronic 241116959 C T forward           DBSNP:rs11680576      
intronic 241117086 C G forward           DBSNP:rs11695091      
intronic 241117133 C T forward           DBSNP:rs11680677      
intronic 241117316 C G forward           DBSNP:rs13430967      
intronic 241117321 C G forward           DBSNP:rs13390118      
intronic 241118028 C T forward           DBSNP:rs12469469      
intronic 241118140 C T forward           DBSNP:rs2352827      
intronic 241118847 C G forward           DBSNP:rs2352828      
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 241119568 C T forward           DBSNP:rs6437344      
intronic 241119906 G T forward           DBSNP:rs11894682      
intronic 241122699 A G forward           DBSNP:rs6748792      
intronic 241122935 C T forward           DBSNP:rs10191531      
intronic 241123004 A G reverse           DBSNP:rs881029      
intronic 241123195 A G forward           DBSNP:rs6752273      
intronic 241123426 A G reverse           DBSNP:rs3792219      
intronic 241123947 A G forward           DBSNP:rs12695020      
intronic 241123955 C T forward           DBSNP:rs12695021      
intronic 241124227 C T forward           DBSNP:rs13001121      
intronic 241124748 A G forward           DBSNP:rs10188712      
intronic 241125060 C T forward           DBSNP:rs3177014      
intronic 241125229 C T reverse           DBSNP:rs2271772      
intronic 241125444 A G forward           DBSNP:rs6760745      
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 241126232 C T reverse           DBSNP:rs3792218      
untranslated 241126371 C T reverse           DBSNP:rs3792217      
untranslated 241126520 A G forward           DBSNP:rs13013933      
untranslated 241126568 C T reverse           DBSNP:rs3792216      
untranslated 241126609 A T forward           DBSNP:rs9678753      
untranslated 241126639 C T reverse           DBSNP:rs3792215      
untranslated 241126691 C G reverse           DBSNP:rs3792214      
untranslated 241126843 C G reverse           DBSNP:rs3792213      
untranslated 241126955 A G reverse           DBSNP:rs3792212      
untranslated 241127360 A T reverse           DBSNP:rs3749126      
untranslated 241127431 C T forward           DBSNP:rs1042823      
intronic                        
intronic                        

Last updated 28-Aug-2006

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