Hermansky-Pudlak syndrome 1 (HPS1) - 7351 nt intron 03 reference sequence

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.8884
gtgagtgcagggtaggcagtcccaggaggggtggataggaaggaaccatacaaaactccc  c.117+60

         .         .         .         .         .         .  g.8944
agcaggcagagaggcaggaaaacctgtgttcaccctgtcctgggcagcatgagcagggtg  c.117+120

         .         .         .         .         .         .  g.9004
ctgggtggggtccagcatccttcacacctagacccttatcctcaaggttggcctcttgat  c.117+180

         .         .         .         .         .         .  g.9064
gctctgagctcggtgaccccacccccacaccccaccagtcctctctggactaaatgaggg  c.117+240

         .         .         .         .         .         .  g.9124
caagaagaagtcgaattttatcacgtaacagaagaacttggagccatcagtttctgtaac  c.117+300

         .         .         .         .         .         .  g.9184
ctaaaaagtttaacaaggctgggcgcggtggctcacgcctgtaatcacaacactttggga  c.117+360

         .         .         .         .         .         .  g.9244
agccaaggtgggccagttgcttgagctcagggatttgagaccagcctgggcagcatggcg  c.117+420

         .         .         .         .         .         .  g.9304
aaaccctgtctctacaaaaaaaatacaaaaattagccaggtgtggtggtgcgtgcctata  c.117+480

         .         .         .         .         .         .  g.9364
gtcccagctacttgggaggttgaggtgggaggatcacttgagtccaggtggtagaggctg  c.117+540

         .         .         .         .         .         .  g.9424
cagtgagccgagactgtgcccatgcattccaacctgggcgacagagcaaaaaaaaaaaaa  c.117+600

         .         .         .         .         .         .  g.9484
aaaagtttaacgtaagctgaacacgttaattttttaatagctgtattaaggtatgattaa  c.117+660

         .         .         .         .         .         .  g.9544
cataccataaattgcacatatttaaagtgcataatttgataagctttgatatgtatatac  c.117+720

         .         .         .         .         .         .  g.9604
ctatgattctatcacaatcaataaaaggaatatatctaccacctcaaacatttgtaatcc  c.117+780

         .         .         .         .         .         .  g.9664
cttctttcccatccccatcgcataggaactgctgatctgctttctgtcatgatagattag  c.117+840

         .         .         .         .         .         .  g.9724
tttgtatcatatggccttatataaatggagtcatacagtatgtgcttggatttagtttgg  c.117+900

         .         .         .         .         .         .  g.9784
ttttggtttgactgctttcactcagcataattattttgtgattcatctgtgttgtggcat  c.117+960

         .         .         .         .         .         .  g.9844
gtatcaatcgttcattccttgtcattgagtagtaatctattgtatcaggatgccaccatt  c.117+1020

         .         .         .         .         .         .  g.9904
tgttcattcatttacttgttgatggacatctgtgttattttcagtttttgactattacaa  c.117+1080

         .         .         .         .         .         .  g.9964
ataaagcaactatgaacatgcacgtacaagtctatgtatacatggatgctttcatgtcca  c.117+1140

         .         .         .         .         .         .  g.10024
aggacagatacttaggatagactggctaggtcatgtaggtgtatgtgtaactttttaata  c.117+1200

         .         .         .         .         .         .  g.10084
aactgccaaacttttccaaagtggttgtgtaatttttgattccacctgtagtgtttgaga  c.117+1260

         .         .         .         .         .         .  g.10144
gttcagttcctccatatcctcaccaacactatagtccgtctttttaattttagccattct  c.117+1320

         .         .         .         .         .         .  g.10204
aatagatgttcactagaatctcactgtgttttaaatttcatttccttaatgactaatgct  c.117+1380

         .         .         .         .         .         .  g.10264
tttgagcatcttttcatgtgcttatttgccatatcttttgcccagtttttatttgagttg  c.117+1440

         .         .         .         .         .         .  g.10324
attgtttcttcttcttattcttactgagttttgagagcttctaatatattttggatggaa  c.117+1500

         .         .         .         .         .         .  g.10384
tcctttatcagatacatgttttacaaatattttctttcagtttgtggcttgtgtttgtat  c.117+1560

         .         .         .         .         .         .  g.10444
tctcaatggtatctttcaaagagcagaagtattagaactcgagtttatccattttgcatt  c.117+1620

         .         .         .         .         .         .  g.10504
tatggattatgcttttagtgttatatctaagaaatctttgcccaacttacaaagagtttt  c.117+1680

         .         .         .         .         .         .  g.10564
ctctacatattcttttgaaagttttatagttttaggttttatatcaggtctgatgatcta  c.117+1740

         .         .         .         .         .         .  g.10624
ctttgaatttttgtgtgtggtatgagctatggattgaagataattttttttttgcatgtg  c.117+1800

         .         .         .         .         .         .  g.10684
gacatccagttcaacagtttaacattacaactcagaaatacttgtcattttcacttacat  c.117+1860

         .         .         .         .         .         .  g.10744
aatttccactctacattttaaaggagtaatttattttgaaaatgttttccagattaattt  c.117+1920

         .         .         .         .         .         .  g.10804
tgggttaaaaatatttttactggggatgcagtggaaggtgttcttacatttctgcagcat  c.117+1980

         .         .         .         .         .         .  g.10864
gggctgattgcctctctgtccctttctgctctaaggggtctcatcatccagccaatgagt  c.117+2040

         .         .         .         .         .         .  g.10924
gagctgactccacctcagggagtccatttaccatcaacatcactcgtgttctcatcacag  c.117+2100

         .         .         .         .         .         .  g.10984
tctttaggcaaacacaagatatcagagatcatagacattcaagtggttttatttaagcta  c.117+2160

         .         .         .         .         .         .  g.11044
actgttaggcttttttattttttaacagtcaatacatataatatttaaattaagaatttt  c.117+2220

         .         .         .         .         .         .  g.11104
taaatatttcagtttttaaactactgttacaactatgtcaacttaagaagcaaactattt  c.117+2280

         .         .         .         .         .         .  g.11164
ggtggcctttctcttcctctttattgaaaacctggcaaaggaacgaactcctgaattttc  c.117+2340

         .         .         .         .         .         .  g.11224
agttcctaaaaatgagtagtgtaaaggaaaggtggtctttaaagttttttttttttgtta  c.117+2400

         .         .         .         .         .         .  g.11284
atgtgcaacacattcttttctcatcatataaataatgagttaattgtaggaaatttggaa  c.117+2460

         .         .         .         .         .         .  g.11344
atacaaagagatagtttttaaatgacctataattccatgacccagagctattagcttttt  c.117+2520

         .         .         .         .         .         .  g.11404
aatatactttctttgggtctttattttttctatataattgggattataccacatttacag  c.117+2580

         .         .         .         .         .         .  g.11464
ttttactgcctgtttttttttccacttgccattatatcaagatatttcttctattttttt  c.117+2640

         .         .         .         .         .         .  g.11524
aaatagtctcagaagcataattcttaatggaaacattgtactccagtacatgaatcagtg  c.117+2700

         .         .         .         .         .         .  g.11584
tatcatcctttatttaaccattttcctcatatggacataaatattgctcctaatttgcta  c.117+2760

         .         .         .         .         .         .  g.11644
tatcactcttgctttaagaaacatttgtgcttaaattttatctcatgtcagataaattcc  c.117+2820

         .         .         .         .         .         .  g.11704
taggataaatttaggataaattcctaaaaataaaaatgttgagtcaaaagccattcaaag  c.117+2880

         .         .         .         .         .         .  g.11764
atattgtactactttataattccgccaagtaatatatgagtatgctcctttatatacacc  c.117+2940

         .         .         .         .         .         .  g.11824
aaatatttttatctcccctgtattagtccattttcttaccactataaagaaatgcccaag  c.117+3000

         .         .         .         .         .         .  g.11884
actgggtactctgtaaaggaaagaagtttaattgactcacagttcagaaggctgtggagg  c.117+3060

         .         .         .         .         .         .  g.11944
cctcaggaaacttacaatcatgtcaaaaggcaaaggggaagcaagacaccttcttcacaa  c.117+3120

         .         .         .         .         .         .  g.12004
ggcagcaggaaggagaagtgctgagtgaaggggaaagagcctcttataaaaccattagat  c.117+3180

         .         .         .         .         .         .  g.12064
ctcatgagaactcactgtcacaagaacagcatgggggaaactgctcccatgattcaatta  c.117+3240

         .         .         .         .         .         .  g.12124
cctccacctggtttctccgttgacatatgaggattgtggggattatggggattacaattc  c.117+3300

         .         .         .         .         .         .  g.12184
aagatgagatttggatggggacacaaagcctaatcatatcattctgccccaggaccctcc  c.117+3360

         .         .         .         .         .         .  g.12244
caaatctcatgtcccttttacatttcaaaaccaatcatgccttcccaacagttccccaaa  c.117+3420

         .         .         .         .         .         .  g.12304
gtcataattcattccagcattaaccaaaaagtccaagactgaagtctcacctgagacaag  c.117+3480

         .         .         .         .         .         .  g.12364
gcaagtcccttccacctatgaccctgtaaaataaaaaacaagttacttccaagacacaat  c.117+3540

         .         .         .         .         .         .  g.12424
gggggtataggcattgggtaaatgttcccattccaaatgggagaaattggaactatgggg  c.117+3600

         .         .         .         .         .         .  g.12484
ctacaggacccatgcaagtccaaaatccagtggggcagtcaaatcttaaagctttgaaat  c.117+3660

         .        g.12500
gatctcctttgactct  c.117+3676

--------------------- middle of intron ---------------------
                                 g.12501          .           g.12515
                                 c.118-3675  atccacgtccaggtc  c.118-3661

.         .         .         .         .         .           g.12575
acactgatacaagaggtgggctcccaaggccttgggcagccctacccctgtgcttctgca  c.118-3601

.         .         .         .         .         .           g.12635
gggcacagtcctcttcccagctgttttcacaggctggtgttgagtgtctgcggcttttcc  c.118-3541

.         .         .         .         .         .           g.12695
aggtgcatggtgcaagctgtcggtggatctaccattctgggggctagaggatgatggccc  c.118-3481

.         .         .         .         .         .           g.12755
tattcttacagctccactaggcaatgccccagtggggactctgtgtggaggtgtctgacc  c.118-3421

.         .         .         .         .         .           g.12815
ccacattcccttaatcactctagcagaggttctccatgagggctctgcccctgtagcaaa  c.118-3361

.         .         .         .         .         .           g.12875
tttctgcctggacatcctgccatttccatacatcctctgaaatctaggtggaggttccca  c.118-3301

.         .         .         .         .         .           g.12935
aacctcagtttttgatttatgtgcacccgtgggcccaataccacatgtaggtcaccaaag  c.118-3241

.         .         .         .         .         .           g.12995
cttggggcttgcactgtctgaaacaacagccagagctatatgttggcaccttttagccat  c.118-3181

.         .         .         .         .         .           g.13055
ggctaggacgcagggcaccatgtccccagagtgcacaaagcagcaaggccctgggcccaa  c.118-3121

.         .         .         .         .         .           g.13115
cccctgaaacagttttttcttcctaggcctccaggcctgtggcgagagggcctgctgtga  c.118-3061

.         .         .         .         .         .           g.13175
agacctctgacaggccctggagacatttttcccattgtcttggtgattaacgtttggctc  c.118-3001

.         .         .         .         .         .           g.13235
ttcattatttatgcaaatttctgcagccagggcttgaatttctcctcagaaaatgggctt  c.118-2941

.         .         .         .         .         .           g.13295
ttcttttctattgcatcatcaggctgcacattttccaaacttttatgttctgcttccctt  c.118-2881

.         .         .         .         .         .           g.13355
ttaaacataagtcccaattccaaaccatctattagtgaatgcataaaactgagtgctttt  c.118-2821

.         .         .         .         .         .           g.13415
tagagcacccaagtcactccctgaatgctttgctacctagaaatttcttccaccccaaat  c.118-2761

.         .         .         .         .         .           g.13475
catctctctcaagttcaaagttgcacagatctctagggcaggggcaaaatgctgccggtc  c.118-2701

.         .         .         .         .         .           g.13535
tctttgctaaagcataacaagagtcacctttgttccagttccaaataagttcctcatctc  c.118-2641

.         .         .         .         .         .           g.13595
catctgagactacctcagcctggacttcattgtccatatcactatcagaattttgttcaa  c.118-2581

.         .         .         .         .         .           g.13655
aagcattcaatgagtctctgggaagttccaaactttcccacatcttcctgttttcttctg  c.118-2521

.         .         .         .         .         .           g.13715
agccctccatactgttccaacctctgcctgttacccagtttcaaagtcactttcacattt  c.118-2461

.         .         .         .         .         .           g.13775
ttgggtatctttatagtagcacctcactctctgtggtaccaatttactgtgtcagtccgt  c.118-2401

.         .         .         .         .         .           g.13835
tttcgtaccactataaagaactgcctgagactgggtaatttataaagaaaaaaggtttaa  c.118-2341

.         .         .         .         .         .           g.13895
ttgactcacagttcagcatggctggggagaactcaggaaacttacagtcgtggtggaagg  c.118-2281

.         .         .         .         .         .           g.13955
caaaggggaaacaaggcaccttcttcgcaaggcagcaggaagaagtgtcaagaaaagtgg  c.118-2221

.         .         .         .         .         .           g.14015
ggaagagccccttataaaaccatcagatctggtgaggactcactcattttcatgagaaca  c.118-2161

.         .         .         .         .         .           g.14075
agttgagaacagcctgggggaaccacccccatgattcagttatctccaccaggtctccct  c.118-2101

.         .         .         .         .         .           g.14135
tgacacgtggggattatggggattacaagtcaagatgagatttgatggggacacaaagct  c.118-2041

.         .         .         .         .         .           g.14195
taaccatgtcatcccctcaccaaaaaaaagttctattcctgcagaaaaagctatagtcat  c.118-1981

.         .         .         .         .         .           g.14255
gccctgcttaatgatggtgatacattctgttaataacaaactcatcattaggtgatttcc  c.118-1921

.         .         .         .         .         .           g.14315
ttgtcatgtgaacatcatagtgtgtgcttacacaaacctagatggtgtagccaactacac  c.118-1861

.         .         .         .         .         .           g.14375
acctaggctgtacagtatggcctgttgctcctaggctgcaaacctacagcatgtgactgt  c.118-1801

.         .         .         .         .         .           g.14435
actgaatactgcaggcagttgtaacacaatggaaatgtttgtgtatctgaatgaacatag  c.118-1741

.         .         .         .         .         .           g.14495
agaaggtatagcaaaaataaagcagtataatcttatggggccactatcatgcgtggtctg  c.118-1681

.         .         .         .         .         .           g.14555
ttgctgaccaaaacattgctcttcagtatgtgactatactgcttttacgatgagtttcta  c.118-1621

.         .         .         .         .         .           g.14615
tcaacatctagattcataagtgacttctctattaataaaatttgttcaagaaaatcatgg  c.118-1561

.         .         .         .         .         .           g.14675
tatatgaataattcagcaaatatttgaattcttgcctgtttatggaattctcgcctatct  c.118-1501

.         .         .         .         .         .           g.14735
gtggggtattcattaaccaaatattaattgggaacctaccatgtgccagtctctcggggt  c.118-1441

.         .         .         .         .         .           g.14795
aaagcagtaaacgtagcaacatgatccttgctttcatggaacttagagtctaaagaagga  c.118-1381

.         .         .         .         .         .           g.14855
cattgtacagtgaaccagatggcaaataagtaccatgagttcagatagtgacaaatagtc  c.118-1321

.         .         .         .         .         .           g.14915
tggagaagttaaatggggtatgggatggggagtgacagaggtggagggcggtagcctgag  c.118-1261

.         .         .         .         .         .           g.14975
gtggccagaaaaaaaaaaatctgagctggaaccagaatgataagtaggagccactgtgaa  c.118-1201

.         .         .         .         .         .           g.15035
agctggacagactaactgtgggagctgggtacagtccttggttcccgaatgttggcagga  c.118-1141

.         .         .         .         .         .           g.15095
aaacctactccatagtgctgtgtcccacttgtacttcaatgctgcaccttcccgctggcc  c.118-1081

.         .         .         .         .         .           g.15155
agttgcctgtctttcttttcaaggcaaggtcttactcagcttcttgtagacttccccagc  c.118-1021

.         .         .         .         .         .           g.15215
tccaagttaggactgtgccttccccatatttcattcacgtctcctgaaatcttcttggga  c.118-961

.         .         .         .         .         .           g.15275
agtctgctgttttcttcctttctttttattccactacggagaatttgagttgtaactgtt  c.118-901

.         .         .         .         .         .           g.15335
ccactggctttatcccattttattcacacatttgcaacaaacttgtccagttcctttttg  c.118-841

.         .         .         .         .         .           g.15395
tttttgtttatttgttttgttccttcttttggagagctgagagaatggatggaggaagag  c.118-781

.         .         .         .         .         .           g.15455
cttatcaaagtcaatgcaggcttgttatggaaaataggaaaagtacagaaacatacttaa  c.118-721

.         .         .         .         .         .           g.15515
aaatagagggaaaaaaatcactcctaattcctctatccagaagtaactttaatagtgttg  c.118-661

.         .         .         .         .         .           g.15575
gctttctcagtattttatcaatacttcgttttttctatgcattcacattcttgttttatt  c.118-601

.         .         .         .         .         .           g.15635
tttagctacaacattgtatcagaggaattttccatgtcattgaaacactctaatatttta  c.118-541

.         .         .         .         .         .           g.15695
agtggctatagacccttccataattttgatgtgctgctatttatttaactatttccctga  c.118-481

.         .         .         .         .         .           g.15755
tactagatgttaacattttttttccagttgtttgctattataaattaggcagtagtgaac  c.118-421

.         .         .         .         .         .           g.15815
atctttgtgcatgtatctttgtcccaatctctgatcattttccttaggacaaattttcca  c.118-361

.         .         .         .         .         .           g.15875
aagtagacttattgcaaaaaacagcatagactttggtacatgctacaaacttccttccag  c.118-301

.         .         .         .         .         .           g.15935
ctccccgttcagtgctccccacattccactgttgtaatgaggcccaattccttaatgttt  c.118-241

.         .         .         .         .         .           g.15995
ccttctagattcagagcctaaacagcaccattacccagctggccctccccattcttccta  c.118-181

.         .         .         .         .         .           g.16055
accaccacccgaagtgttggggacagtctctttttgctcccctccctaccaggacagtga  c.118-121

.         .         .         .         .         .           g.16115
taccctcccaggagggtctaacactatggaacccttgatatcaaggcctgatcttgtccc  c.118-61

.         .         .         .         .         .           g.16175
ttccttagttcttggtgtctggcccactctaagctgtgaaattttcccccatttttgcag  c.118-1


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