Hedgehog Signaling Pathway Database
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Human Mutations -
Stk36
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
K > R
295
N
DBSNP:rs1863703
K > Q
295
N
DBSNP:rs2384951
R > W
477
N
DBSNP:rs16859180
R > Q
583
N
DBSNP:rs1344642
Q > P
638
N
DBSNP:rs6709303
R > Q
839
N
DBSNP:rs13023540
G > D
1003
N
DBSNP:rs1863704
R > Q
1112
N
DBSNP:rs12993599
A > A
1180
S
DBSNP:rs2241528
intronic
219363524
G T
forward
DBSNP:rs1344645
intronic
219364304
A C
forward
DBSNP:rs7604319
intronic
219364742
C T
forward
DBSNP:rs7578509
intronic
219365967
A G
forward
DBSNP:rs6732979
intronic
219366561
C T
forward
DBSNP:rs2556388
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
219368352
A T
forward
DBSNP:rs11681170
intronic
219368479
C T
forward
DBSNP:rs6718166
intronic
219368672
C T
forward
DBSNP:rs6436065
intronic
219368782
A G
forward
DBSNP:rs2710250
intronic
219368938
C T
forward
DBSNP:rs2710251
intronic
219370607
A T
forward
DBSNP:rs12471178
intronic
219370814
C T
forward
DBSNP:rs2303565
intronic
219371294
A G
forward
DBSNP:rs2912737
intronic
219373947
A G
forward
DBSNP:rs6723849
intronic
219374501
A G
forward
DBSNP:rs2912738
intronic
219374665
A T
forward
DBSNP:rs11894974
intronic
219376541
A T
forward
DBSNP:rs2433738
intronic
219376549
A T
reverse
DBSNP:rs2465100
intronic
219376765
A G
forward
DBSNP:rs6742574
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
219376897
A G
forward
DBSNP:rs11895139
intronic
219378097
C T
forward
DBSNP:rs2385066
intronic
219378166
A G
forward
DBSNP:rs1807165
intronic
219378428
A T
reverse
DBSNP:rs746119
intronic
219378596
G T
forward
DBSNP:rs4461253
intronic
219379226
A G
forward
DBSNP:rs7576129
intronic
219379767
G T
forward
DBSNP:rs11679333
intronic
219380053
A T
forward
DBSNP:rs7603129
intronic
219380797
A G
forward
DBSNP:rs1427444
intronic
219381078
A C
forward
DBSNP:rs1427445
intronic
219381851
C T
forward
DBSNP:rs2556391
intronic
219383243
A G
forward
DBSNP:rs2303566
intronic
219384578
C T
forward
DBSNP:rs2710256
intronic
219384581
C T
forward
DBSNP:rs2556392
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
219386113
A G
forward
DBSNP:rs10181498
intronic
219386326
C G
forward
DBSNP:rs6732777
intronic
219386646
A G
forward
DBSNP:rs6733350
intronic
219387219
C T
forward
DBSNP:rs1465535
intronic
219388596
A G
forward
DBSNP:rs731297
intronic
219390253
A G
forward
DBSNP:rs6748839
intronic
219390424
C T
forward
DBSNP:rs6706682
intronic
219391105
C T
forward
DBSNP:rs6707515
intronic
219391395
C T
forward
DBSNP:rs6710925
intronic
219391657
C T
forward
DBSNP:rs2710259
intronic
219391763
C T
forward
DBSNP:rs7562642
untranslated
219362471
A C
forward
DBSNP:rs6748412
untranslated
219362680
A G
forward
DBSNP:rs6720523
untranslated
219362729
A G
forward
DBSNP:rs2241527
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
219363009
C G
forward
DBSNP:rs4309572
Last updated 28-Aug-2006
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