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Gene ID: SAMM50
Symbol
Refseq RNA
Refseq Protein
Swiss-Prot Gene
dbSNP SNP
Swiss-Prot Var.
Navigation:
Non-Synonymous SNPs
Synonymous SNPs
Intronic SNPs
Untranslated mRNA SNPs
Display:
All
SwissProt Only
dbSNP Only
No SNP-gene mapping image available.
Gene Info
Annotation Info
Description:
sorting and assembly machinery component 50
Swiss-Prot Source:
SAM50_HUMAN
Chromosome:
22
NCBI mRNA Source:
NM_015380
Gene length:
41111
NCBI Protein Source:
NP_056195
Exons:
15
Gene Symbol:
SAMM50
Number of Transcript Variants
0
Visualize Pathways
Using web services (slow)
Visualize Pathways
Using local data (fast)
Mutation List
Back to top
Source ID
AA Position
(help?)
WT -> MT
(help?)
Sequence
Phenotype
Structure
PubMed
SIFT Score
(help?)
DBSNP:rs3761472
109
D G
NCBI
In dbsnp.
None
0.39
DBSNP:rs11547242
289
G V
NCBI
In dbsnp.
None
Not scored
DBSNP:rs8418
344
I V
NCBI
In dbsnp.
None
Not scored
Synonymous Mutations
Back to top
Source ID
AA Position
(help?)
WT -> MT
(help?)
Sequence
Phenotype
Structure
PubMed
DBSNP:rs11547245
28
V V
NCBI
In dbsnp
None
DBSNP:rs3177036
136
G G
NCBI
In dbsnp
None
DBSNP:rs14315
259
H H
NCBI
In dbsnp
None
DBSNP:rs10452
338
L L
NCBI
In dbsnp
None
DBSNP:rs6006604
452
G G
NCBI
In dbsnp
None
Intronic SNPs
Back to top
Source ID
Nucleotide
Position
WT -> MT
Sequence
Phenotype
Strand
PubMed
DBSNP:rs9626065
42682829
A C
NCBI
In dbsnp
forward
DBSNP:rs9626066
42682841
A T
NCBI
In dbsnp
forward
DBSNP:rs28733632
42684779
C T
NCBI
In dbsnp
forward
DBSNP:rs738491
42685443
C T
NCBI
In dbsnp
forward
DBSNP:rs738491
42685443
C T
NCBI
In dbsnp
forward
DBSNP:rs12157376
42685689
C T
NCBI
In dbsnp
forward
DBSNP:rs1807589
42685730
A G
NCBI
In dbsnp
forward
DBSNP:rs1807589
42685730
A G
NCBI
In dbsnp
forward
DBSNP:rs9626064
42685930
C T
NCBI
In dbsnp
forward
DBSNP:rs6006463
42686173
C T
NCBI
In dbsnp
forward
DBSNP:rs11705218
42686197
A G
NCBI
In dbsnp
forward
DBSNP:rs5764425
42686214
G T
NCBI
In dbsnp
forward
DBSNP:rs6006591
42686562
A G
NCBI
In dbsnp
forward
DBSNP:rs11090619
42686743
C T
NCBI
In dbsnp
forward
DBSNP:rs2401513
42686901
C T
NCBI
In dbsnp
forward
DBSNP:rs2401513
42686901
C T
NCBI
In dbsnp
forward
DBSNP:rs12167336
42687026
G T
NCBI
In dbsnp
forward
DBSNP:rs9626073
42687079
A G
NCBI
In dbsnp
forward
DBSNP:rs2064361
42687681
C G
NCBI
In dbsnp
forward
DBSNP:rs2064361
42687681
C G
NCBI
In dbsnp
forward
DBSNP:rs28421169
42687894
C T
NCBI
In dbsnp
forward
DBSNP:rs9614294
42687898
A G
NCBI
In dbsnp
forward
DBSNP:rs28377340
42688031
C T
NCBI
In dbsnp
forward
DBSNP:rs8138476
42688496
C T
NCBI
In dbsnp
forward
DBSNP:rs2896021
42689232
A G
NCBI
In dbsnp
forward
DBSNP:rs2896021
42689232
A G
NCBI
In dbsnp
forward
DBSNP:rs6006592
42689573
A G
NCBI
In dbsnp
forward
DBSNP:rs9626068
42689692
C G
NCBI
In dbsnp
forward
DBSNP:rs9626069
42689802
C T
NCBI
In dbsnp
forward
DBSNP:rs9626070
42689897
C T
NCBI
In dbsnp
forward
DBSNP:rs9614295
42690128
A G
NCBI
In dbsnp
forward
DBSNP:rs9614296
42690130
A G
NCBI
In dbsnp
forward
DBSNP:rs5764047
42690144
A G
NCBI
In dbsnp
forward
DBSNP:rs28754570
42690151
C G
NCBI
In dbsnp
forward
DBSNP:rs9614297
42690205
A G
NCBI
In dbsnp
forward
DBSNP:rs16991236
42690329
A G
NCBI
In dbsnp
forward
DBSNP:rs9614299
42690636
A G
NCBI
In dbsnp
forward
DBSNP:rs12168138
42690983
C T
NCBI
In dbsnp
forward
DBSNP:rs12170274
42691061
C T
NCBI
In dbsnp
forward
DBSNP:rs9626071
42691270
A C
NCBI
In dbsnp
forward
DBSNP:rs2073082
42691339
A G
NCBI
In dbsnp
forward
DBSNP:rs2073082
42691339
A G
NCBI
In dbsnp
forward
DBSNP:rs2073083
42691342
A C
NCBI
In dbsnp
forward
DBSNP:rs2073083
42691342
A C
NCBI
In dbsnp
forward
DBSNP:rs6006593
42691388
A C
NCBI
In dbsnp
forward
DBSNP:rs16991238
42691466
A G
NCBI
In dbsnp
forward
DBSNP:rs9626072
42692087
C G
NCBI
In dbsnp
forward
DBSNP:rs11703203
42692144
C T
NCBI
In dbsnp
forward
DBSNP:rs11703806
42692394
C T
NCBI
In dbsnp
forward
DBSNP:rs5764430
42692829
A C
NCBI
In dbsnp
forward
DBSNP:rs12165526
42693045
A T
NCBI
In dbsnp
forward
DBSNP:rs2294921
42693174
C T
NCBI
In dbsnp
forward
DBSNP:rs5764431
42693864
A G
NCBI
In dbsnp
forward
DBSNP:rs9614300
42694147
C T
NCBI
In dbsnp
forward
DBSNP:rs12330116
42694563
A C
NCBI
In dbsnp
forward
DBSNP:rs9626074
42695068
C T
NCBI
In dbsnp
forward
DBSNP:rs5764432
42695122
G T
NCBI
In dbsnp
forward
DBSNP:rs7287377
42695267
C T
NCBI
In dbsnp
forward
DBSNP:rs3788603
42695271
A T
NCBI
In dbsnp
forward
DBSNP:rs12160772
42695467
A G
NCBI
In dbsnp
forward
DBSNP:rs12157621
42695474
A G
NCBI
In dbsnp
forward
DBSNP:rs12160773
42695475
A G
NCBI
In dbsnp
forward
DBSNP:rs5764434
42695926
C T
NCBI
In dbsnp
forward
DBSNP:rs2273031
42696126
C T
NCBI
In dbsnp
forward
DBSNP:rs2273031
42696126
C T
NCBI
In dbsnp
forward
DBSNP:rs6006594
42696564
C G
NCBI
In dbsnp
forward
DBSNP:rs6006464
42697020
G T
NCBI
In dbsnp
forward
DBSNP:rs6006465
42697074
A G
NCBI
In dbsnp
forward
DBSNP:rs12168183
42697467
A G
NCBI
In dbsnp
forward
DBSNP:rs2235771
42698141
A G
NCBI
In dbsnp
forward
DBSNP:rs2235771
42698141
A G
NCBI
In dbsnp
forward
DBSNP:rs9626075
42698206
A G
NCBI
In dbsnp
forward
DBSNP:rs7289211
42698750
A G
NCBI
In dbsnp
forward
DBSNP:rs28602885
42698927
G T
NCBI
In dbsnp
forward
DBSNP:rs5764444
42699096
G T
NCBI
In dbsnp
forward
DBSNP:rs6006595
42699371
C T
NCBI
In dbsnp
forward
DBSNP:rs9626076
42699916
A G
NCBI
In dbsnp
forward
DBSNP:rs932430
42700073
C T
NCBI
In dbsnp
forward
DBSNP:rs932430
42700073
C T
NCBI
In dbsnp
forward
DBSNP:rs6006596
42700335
A G
NCBI
In dbsnp
forward
DBSNP:rs2235772
42700661
C T
NCBI
In dbsnp
forward
DBSNP:rs2235772
42700661
C T
NCBI
In dbsnp
forward
DBSNP:rs11912752
42700712
G T
NCBI
In dbsnp
forward
DBSNP:rs9614301
42700736
A G
NCBI
In dbsnp
forward
DBSNP:rs6006466
42700761
C T
NCBI
In dbsnp
forward
DBSNP:rs9626077
42701247
C T
NCBI
In dbsnp
forward
DBSNP:rs12330016
42701259
C T
NCBI
In dbsnp
forward
DBSNP:rs2235773
42701507
C T
NCBI
In dbsnp
forward
DBSNP:rs2235773
42701507
C T
NCBI
In dbsnp
forward
DBSNP:rs738492
42701668
G T
NCBI
In dbsnp
forward
DBSNP:rs738492
42701668
G T
NCBI
In dbsnp
forward
DBSNP:rs738493
42701669
C T
NCBI
In dbsnp
forward
DBSNP:rs738493
42701669
C T
NCBI
In dbsnp
forward
DBSNP:rs738494
42701771
A C
NCBI
In dbsnp
forward
DBSNP:rs738494
42701771
A C
NCBI
In dbsnp
forward
DBSNP:rs738495
42701947
C T
NCBI
In dbsnp
forward
DBSNP:rs738495
42701947
C T
NCBI
In dbsnp
forward
DBSNP:rs4823106
42702575
A G
NCBI
In dbsnp
forward
DBSNP:rs4823106
42702575
A G
NCBI
In dbsnp
forward
DBSNP:rs2281294
42702644
A G
NCBI
In dbsnp
forward
DBSNP:rs2281294
42702644
A G
NCBI
In dbsnp
forward
DBSNP:rs5764442
42703057
C G
NCBI
In dbsnp
forward
DBSNP:rs2073084
42703401
A G
NCBI
In dbsnp
forward
DBSNP:rs2073084
42703401
A G
NCBI
In dbsnp
forward
DBSNP:rs2073085
42703522
C T
NCBI
In dbsnp
forward
DBSNP:rs2073085
42703522
C T
NCBI
In dbsnp
forward
DBSNP:rs2073086
42703663
C T
NCBI
In dbsnp
forward
DBSNP:rs2073086
42703663
C T
NCBI
In dbsnp
forward
DBSNP:rs12168029
42704463
A G
NCBI
In dbsnp
forward
DBSNP:rs2073088
42704911
A G
NCBI
In dbsnp
forward
DBSNP:rs2073088
42704911
A G
NCBI
In dbsnp
forward
DBSNP:rs13053883
42704991
C T
NCBI
In dbsnp
forward
DBSNP:rs9626078
42705279
A G
NCBI
In dbsnp
forward
DBSNP:rs2281295
42705527
G T
NCBI
In dbsnp
forward
DBSNP:rs5764048
42705599
A G
NCBI
In dbsnp
forward
DBSNP:rs5764448
42706124
C G
NCBI
In dbsnp
forward
DBSNP:rs7410427
42706241
C T
NCBI
In dbsnp
forward
DBSNP:rs7410294
42706383
C T
NCBI
In dbsnp
forward
DBSNP:rs6519823
42706576
C T
NCBI
In dbsnp
forward
DBSNP:rs2235774
42706579
A C
NCBI
In dbsnp
forward
DBSNP:rs2235774
42706579
A C
NCBI
In dbsnp
forward
DBSNP:rs2235775
42706607
A C
NCBI
In dbsnp
forward
DBSNP:rs2235775
42706607
A C
NCBI
In dbsnp
forward
DBSNP:rs8142910
42706839
C T
NCBI
In dbsnp
forward
DBSNP:rs11090620
42707074
C T
NCBI
In dbsnp
forward
DBSNP:rs6006601
42707434
C T
NCBI
In dbsnp
forward
DBSNP:rs6006597
42708345
A G
NCBI
In dbsnp
forward
DBSNP:rs4823182
42708774
A G
NCBI
In dbsnp
forward
DBSNP:rs4823182
42708774
A G
NCBI
In dbsnp
forward
DBSNP:rs2235776
42709331
C T
NCBI
In dbsnp
forward
DBSNP:rs2235776
42709331
C T
NCBI
In dbsnp
forward
DBSNP:rs9614302
42709638
G T
NCBI
In dbsnp
forward
DBSNP:rs4823183
42710004
A C
NCBI
In dbsnp
forward
DBSNP:rs4823183
42710004
A C
NCBI
In dbsnp
forward
DBSNP:rs2235777
42710141
C T
NCBI
In dbsnp
forward
DBSNP:rs2235777
42710141
C T
NCBI
In dbsnp
forward
DBSNP:rs5764446
42710544
G T
NCBI
In dbsnp
forward
DBSNP:rs2294922
42710897
C G
NCBI
In dbsnp
forward
DBSNP:rs2294922
42710897
C G
NCBI
In dbsnp
forward
DBSNP:rs2294923
42711072
A C
NCBI
In dbsnp
forward
DBSNP:rs2294923
42711072
A C
NCBI
In dbsnp
forward
DBSNP:rs9626079
42711341
A G
NCBI
In dbsnp
forward
DBSNP:rs6006598
42711365
C T
NCBI
In dbsnp
forward
DBSNP:rs12167845
42712099
C T
NCBI
In dbsnp
forward
DBSNP:rs4823107
42712555
C G
NCBI
In dbsnp
forward
DBSNP:rs4823108
42712672
C T
NCBI
In dbsnp
forward
DBSNP:rs4823109
42712814
C T
NCBI
In dbsnp
forward
DBSNP:rs736082
42712877
C T
NCBI
In dbsnp
forward
DBSNP:rs736082
42712877
C T
NCBI
In dbsnp
forward
DBSNP:rs5764449
42712975
A C
NCBI
In dbsnp
forward
DBSNP:rs4991978
42713259
C T
NCBI
In dbsnp
forward
DBSNP:rs4991978
42713259
C T
NCBI
In dbsnp
forward
DBSNP:rs6006599
42713336
A C
NCBI
In dbsnp
forward
DBSNP:rs6006600
42713404
C T
NCBI
In dbsnp
forward
DBSNP:rs6006467
42713579
A C
NCBI
In dbsnp
forward
DBSNP:rs2294926
42713865
C T
NCBI
In dbsnp
forward
DBSNP:rs28561761
42713921
C G
NCBI
In dbsnp
forward
DBSNP:rs2294927
42714016
C T
NCBI
In dbsnp
forward
DBSNP:rs2294927
42714016
C T
NCBI
In dbsnp
forward
DBSNP:rs2294928
42714185
A G
NCBI
In dbsnp
forward
DBSNP:rs2294928
42714185
A G
NCBI
In dbsnp
forward
DBSNP:rs12166587
42714402
C T
NCBI
In dbsnp
forward
DBSNP:rs6006602
42714732
C T
NCBI
In dbsnp
forward
DBSNP:rs6006468
42714764
C G
NCBI
In dbsnp
forward
DBSNP:rs9625970
42714834
C T
NCBI
In dbsnp
forward
DBSNP:rs6006469
42714949
C G
NCBI
In dbsnp
forward
DBSNP:rs2294929
42715125
C T
NCBI
In dbsnp
forward
DBSNP:rs2294929
42715125
C T
NCBI
In dbsnp
forward
DBSNP:rs12158715
42715611
C G
NCBI
In dbsnp
forward
DBSNP:rs16991286
42715953
G T
NCBI
In dbsnp
forward
DBSNP:rs16991288
42716213
C G
NCBI
In dbsnp
forward
DBSNP:rs2281291
42716747
A T
NCBI
In dbsnp
forward
DBSNP:rs2073079
42716926
A G
NCBI
In dbsnp
forward
DBSNP:rs2073079
42716926
A G
NCBI
In dbsnp
forward
DBSNP:rs6006603
42717146
A G
NCBI
In dbsnp
forward
DBSNP:rs7287332
42717970
A G
NCBI
In dbsnp
forward
DBSNP:rs5764051
42718044
C T
NCBI
In dbsnp
forward
DBSNP:rs1986095
42718440
A G
NCBI
In dbsnp
forward
DBSNP:rs1986095
42718440
A G
NCBI
In dbsnp
forward
DBSNP:rs16991298
42719276
C T
NCBI
In dbsnp
forward
DBSNP:rs6006470
42719328
C G
NCBI
In dbsnp
forward
DBSNP:rs6006471
42719540
C T
NCBI
In dbsnp
forward
DBSNP:rs17580791
42719613
G T
NCBI
In dbsnp
forward
DBSNP:rs6006605
42719650
A G
NCBI
In dbsnp
forward
DBSNP:rs5764451
42719669
A G
NCBI
In dbsnp
forward
DBSNP:rs3788604
42719749
A G
NCBI
In dbsnp
forward
DBSNP:rs3788604
42719749
A G
NCBI
In dbsnp
forward
DBSNP:rs3827385
42720149
C T
NCBI
In dbsnp
forward
DBSNP:rs3827385
42720149
C T
NCBI
In dbsnp
forward
DBSNP:rs16991301
42720251
A G
NCBI
In dbsnp
forward
DBSNP:rs3827386
42720724
A G
NCBI
In dbsnp
forward
DBSNP:rs3827386
42720724
A G
NCBI
In dbsnp
forward
DBSNP:rs16991306
42720732
C T
NCBI
In dbsnp
forward
DBSNP:rs2235778
42720846
C T
NCBI
In dbsnp
forward
DBSNP:rs2235778
42720846
C T
NCBI
In dbsnp
forward
DBSNP:rs5764052
42720869
C T
NCBI
In dbsnp
forward
DBSNP:rs5764053
42721568
C T
NCBI
In dbsnp
forward
DBSNP:rs2235779
42721698
A G
NCBI
In dbsnp
forward
DBSNP:rs2235779
42721698
A G
NCBI
In dbsnp
forward
DBSNP:rs2281296
42721879
A G
NCBI
In dbsnp
forward
DBSNP:rs2281296
42721879
A G
NCBI
In dbsnp
forward
DBSNP:rs2281297
42721900
C T
NCBI
In dbsnp
forward
DBSNP:rs2281297
42721900
C T
NCBI
In dbsnp
forward
DBSNP:rs9614303
42721970
C T
NCBI
In dbsnp
forward
DBSNP:rs9614304
42722043
C T
NCBI
In dbsnp
forward
DBSNP:rs7292588
42722317
G T
NCBI
In dbsnp
forward
DBSNP:rs5764055
42722357
C T
NCBI
In dbsnp
forward
DBSNP:rs9614305
42722481
C T
NCBI
In dbsnp
forward
DBSNP:rs2281298
42722566
A G
NCBI
In dbsnp
forward
DBSNP:rs2281298
42722566
A G
NCBI
In dbsnp
forward
DBSNP:rs12158673
42722729
C T
NCBI
In dbsnp
forward
DBSNP:rs2179642
42722920
C T
NCBI
In dbsnp
forward
DBSNP:rs2179642
42722920
C T
NCBI
In dbsnp
forward
DBSNP:rs2143571
42723018
A G
NCBI
In dbsnp
forward
DBSNP:rs2143571
42723018
A G
NCBI
In dbsnp
forward
Untranslated mRNA SNPs
Back to top
Source ID
Nucleotide
Position
WT -> MT
Sequence
Phenotype
Strand
PubMed
DBSNP:rs2294920
42682683
C T
NCBI
In dbsnp
forward
DBSNP:rs2294920
42682683
C T
NCBI
In dbsnp
forward
DBSNP:rs11547244
42682684
C T
NCBI
In dbsnp
forward
DBSNP:rs11547243
42682766
G T
NCBI
In dbsnp
forward
DBSNP:rs5764453
42723647
A C
NCBI
In dbsnp
forward
Back:
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