Hedgehog Signaling Pathway Database
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Human Mutations -
rab23
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
G > S
207
N
DBSNP:rs1040461
intronic
57165049
C T
forward
DBSNP:rs16888379
intronic
57165142
C T
forward
DBSNP:rs1547226
intronic
57165178
A G
forward
DBSNP:rs9475788
intronic
57167779
G T
forward
DBSNP:rs9357940
intronic
57170472
C T
forward
DBSNP:rs9475789
intronic
57171053
C T
forward
DBSNP:rs812061
intronic
57171450
A G
forward
DBSNP:rs12194288
intronic
57171905
A G
forward
DBSNP:rs12195875
intronic
57172017
C G
forward
DBSNP:rs9367715
intronic
57172373
A G
forward
DBSNP:rs13205314
intronic
57172378
A G
forward
DBSNP:rs13205315
intronic
57172618
A C
forward
DBSNP:rs16888387
intronic
57173402
C G
forward
DBSNP:rs12211611
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
57175521
C T
forward
DBSNP:rs9464421
intronic
57176899
C T
reverse
DBSNP:rs3800019
intronic
57177565
A G
reverse
DBSNP:rs3800018
intronic
57177795
A G
forward
DBSNP:rs12175244
intronic
57177823
A G
forward
DBSNP:rs12175246
intronic
57177830
C T
forward
DBSNP:rs12173607
intronic
57177874
A G
forward
DBSNP:rs12175384
intronic
57177881
C T
forward
DBSNP:rs12173842
intronic
57178643
A G
forward
DBSNP:rs9396263
intronic
57182870
A G
forward
DBSNP:rs9357941
untranslated
57161906
A G
reverse
DBSNP:rs11398
untranslated
57161967
C T
forward
DBSNP:rs182662
untranslated
57162407
C T
forward
DBSNP:rs16888378
untranslated
57162737
A T
reverse
DBSNP:rs1052073
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
57163074
A C
forward
DBSNP:rs2840262
untranslated
57163125
G T
forward
DBSNP:rs4559091
untranslated
57184511
A G
forward
DBSNP:rs16888392
untranslated
57185094
A G
forward
DBSNP:rs12210597
untranslated
57185773
A T
forward
DBSNP:rs806386
untranslated
57186152
C T
forward
DBSNP:rs7765361
untranslated
57188186
A G
forward
DBSNP:rs9475790
untranslated
57188358
A C
forward
DBSNP:rs7381223
untranslated
57189837
A G
forward
DBSNP:rs7744316
untranslated
57189913
C T
forward
DBSNP:rs12206661
untranslated
57193585
C T
forward
DBSNP:rs9382690
untranslated
57193788
C T
forward
DBSNP:rs9382691
Last updated 28-Aug-2006
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