SET binding factor 1 (SBF1) - coding DNA reference sequence

(used for variant description)

(last modified February 23, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_002972.2 in the SBF1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_041810.1, covering SBF1 transcript NM_002972.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5015
                                              gggcgggccggctgg       c.-181

 .         .         .         .         .         .                g.5075
 ctgggaagatggcggcgggaacctgggccgccgccgccgccgccgccgccgccgcggagc       c.-121

 .         .         .         .         .         .                g.5135
 gaaccaggggtgtccggggtgcgcggtccagggccggggccgggccatgagcgcgccgtc       c.-61

 .         .         .         .         .         .                g.5195
 ctcgagtccccgagccgcggagcccgcccgcgcccctcgggccgccccgcgtccctcgcc       c.-1

          .         .         .         .         .      | 02  .    g.11579
 ATGGCGCGGCTCGCGGACTACTTCGTGCTGGTGGCGTTCGGGCCGCACCCGCGCG | GGAGT    c.60
 M  A  R  L  A  D  Y  F  V  L  V  A  F  G  P  H  P  R  G |   S      p.20

          .         .         .         .         .         .       g.11639
 GGGGAAGGCCAGGGCCAGATTCTGCAGCGCTTCCCAGAGAAGGACTGGGAGGACAACCCA       c.120
 G  E  G  Q  G  Q  I  L  Q  R  F  P  E  K  D  W  E  D  N  P         p.40

          .         .  | 03      .         .         .         .    g.12151
 TTCCCCCAGGGCATCGAGCTG | TTTTGCCAGCCCAGCGGGTGGCAGCTGTGTCCCGAGAGG    c.180
 F  P  Q  G  I  E  L   | F  C  Q  P  S  G  W  Q  L  C  P  E  R      p.60

          .         .         .         .         .         .       g.12211
 AATCCACCGACCTTCTTTGTTGCTGTCCTCACCGACATCAACTCCGAGCGCCACTACTGC       c.240
 N  P  P  T  F  F  V  A  V  L  T  D  I  N  S  E  R  H  Y  C         p.80

          .         .         .          | 04        .         .    g.12366
 GCCTGCTTGACCTTCTGGGAGCCAGCGGAGCCTTCACAG | GAAACGACGCGCGTGGAGGAT    c.300
 A  C  L  T  F  W  E  P  A  E  P  S  Q   | E  T  T  R  V  E  D      p.100

          .         .         .         .         .         .       g.12426
 GCCACAGAGAGGGAGGAAGAGGGGGATGAGGGAGGCCAGACCCACCTGTCTCCCACAGCA       c.360
 A  T  E  R  E  E  E  G  D  E  G  G  Q  T  H  L  S  P  T  A         p.120

          .         .         .         .         .         .       g.12486
 CCTGCCCCATCTGCCCAGCTGTTTGCACCGAAGACGCTGGTACTGGTGTCGCGACTCGAC       c.420
 P  A  P  S  A  Q  L  F  A  P  K  T  L  V  L  V  S  R  L  D         p.140

          .         | 05         .         .         .         .    g.12629
 CACACGGAGGTGTTCAGG | AACAGCCTTGGCCTCATCTATGCCATCCACGTGGAGGGCCTG    c.480
 H  T  E  V  F  R   | N  S  L  G  L  I  Y  A  I  H  V  E  G  L      p.160

          .         .         .         .         .         .       g.12689
 AATGTGTGCCTGGAGAACGTGATTGGGAACCTGCTGACGTGCACTGTGCCCCTGGCTGGG       c.540
 N  V  C  L  E  N  V  I  G  N  L  L  T  C  T  V  P  L  A  G         p.180

           | 06        .         .         .         .         .    g.13376
 GGCTCGCAG | AGGACGATCTCTTTGGGGGCTGGTGACCGGCAGGTCATCCAGACTCCACTG    c.600
 G  S  Q   | R  T  I  S  L  G  A  G  D  R  Q  V  I  Q  T  P  L      p.200

          .         .         .         .         .      | 07  .    g.13558
 GCCGACTCGCTGCCCGTCAGCCGCTGCAGCGTGGCCCTGCTCTTCCGCCAGCTAG | GCATC    c.660
 A  D  S  L  P  V  S  R  C  S  V  A  L  L  F  R  Q  L  G |   I      p.220

          .         .         .         .         .         .       g.13618
 ACCAACGTGCTGTCTTTGTTCTGTGCCGCCCTCACGGAGCACAAGGTTCTCTTCCTGTCC       c.720
 T  N  V  L  S  L  F  C  A  A  L  T  E  H  K  V  L  F  L  S         p.240

          .         .         .         .         .         .       g.13678
 CGGAGCTACCAGCGGCTCGCCGATGCCTGTAGGGGCCTCCTGGCACTGCTGTTTCCTCTC       c.780
 R  S  Y  Q  R  L  A  D  A  C  R  G  L  L  A  L  L  F  P  L         p.260

          | 08         .         .         .         .         .    g.13829
 AGATACAG | CTTCACCTATGTGCCCATCCTGCCGGCTCAGCTGCTGGAGGTCCTCAGCACA    c.840
 R  Y  S  |  F  T  Y  V  P  I  L  P  A  Q  L  L  E  V  L  S  T      p.280

          .         .         .         .         .        | 09.    g.13964
 CCCACGCCCTTCATCATTGGGGTCAACGCGGCCTTCCAGGCAGAGACCCAGGAGCTG | CTC    c.900
 P  T  P  F  I  I  G  V  N  A  A  F  Q  A  E  T  Q  E  L   | L      p.300

          .         .         .         .         .         .       g.14024
 GATGTGATTGTTGCTGATCTGGATGGAGGGACGGTCACCATTCCTGAGTGTGTGCACATT       c.960
 D  V  I  V  A  D  L  D  G  G  T  V  T  I  P  E  C  V  H  I         p.320

          .         .         .         .         .  | 10      .    g.14204
 CCACCCTTGCCAGAGCCACTGCAGAGTCAGACGCACAGTGTGCTGAGCATG | GTCCTGGAC    c.1020
 P  P  L  P  E  P  L  Q  S  Q  T  H  S  V  L  S  M   | V  L  D      p.340

          .         .         .         .         .         .       g.14264
 CCGGAGCTGGAGTTGGCTGACCTCGCCTTCCCTCCGCCCACGACATCCACCTCCTCCCTG       c.1080
 P  E  L  E  L  A  D  L  A  F  P  P  P  T  T  S  T  S  S  L         p.360

           | 11        .         .         .         .         .    g.14758
 AAGATGCAG | GACAAGGAGCTGCGCGCGGTCTTCCTGCGGCTGTTCGCTCAGCTGCTGCAG    c.1140
 K  M  Q   | D  K  E  L  R  A  V  F  L  R  L  F  A  Q  L  L  Q      p.380

          .         .         .         .         .         .       g.14818
 GGCTATCGCTGGTGCCTGCACGTCGTGCGCATCCACCCGGAGCCTGTCATCCGCTTCCAT       c.1200
 G  Y  R  W  C  L  H  V  V  R  I  H  P  E  P  V  I  R  F  H         p.400

     | 12    .         .         .         .         .         .    g.14963
 AAG | GCAGCCTTCCTGGGCCAGCGTGGGCTGGTAGAGGACGATTTCCTGATGAAGGTGCTG    c.1260
 K   | A  A  F  L  G  Q  R  G  L  V  E  D  D  F  L  M  K  V  L      p.420

          .         .         .         .         .         .       g.15023
 GAGGGCATGGCCTTTGCTGGCTTTGTGTCAGAGCGTGGGGTCCCATACCGCCCTACGGAC       c.1320
 E  G  M  A  F  A  G  F  V  S  E  R  G  V  P  Y  R  P  T  D         p.440

          .   | 13     .         .         .         .         .    g.15166
 CTGTTCGATGAG | CTGGTGGCCCACGAGGTGGCAAGGATGCGGGCGGATGAGAACCACCCC    c.1380
 L  F  D  E   | L  V  A  H  E  V  A  R  M  R  A  D  E  N  H  P      p.460

          .         .         .         .         .  | 14      .    g.15306
 CAGCGTGTCCTGCGTCACGTCCAGGAACTGGCAGAGCAGCTCTACAAGAAC | GAGAACCCG    c.1440
 Q  R  V  L  R  H  V  Q  E  L  A  E  Q  L  Y  K  N   | E  N  P      p.480

          .         .         .         .         .         .       g.15366
 TACCCAGCCGTGGCGATGCACAAGGTACAGAGGCCCGGTGAGAGCAGCCACCTGCGACGG       c.1500
 Y  P  A  V  A  M  H  K  V  Q  R  P  G  E  S  S  H  L  R  R         p.500

          .         .         .         .         .         .       g.15426
 GTGCCCCGACCCTTCCCCCGGCTGGATGAGGGCACCGTGCAGTGGATCGTGGACCAGGCT       c.1560
 V  P  R  P  F  P  R  L  D  E  G  T  V  Q  W  I  V  D  Q  A         p.520

          .         .         .         .         .         .       g.15486
 GCAGCCAAGATGCAGGGTGCACCCCCAGCTGTGAAGGCCGAGAGGAGGACCACCGTGCCC       c.1620
 A  A  K  M  Q  G  A  P  P  A  V  K  A  E  R  R  T  T  V  P         p.540

          .       | 15 .         .         .         .         .    g.15638
 TCAGGGCCCCCCATGA | CTGCCATACTGGAGCGGTGCAGTGGGCTGCATGTCAACAGCGCC    c.1680
 S  G  P  P  M  T |   A  I  L  E  R  C  S  G  L  H  V  N  S  A      p.560

          .         .         .         .         .         .       g.15698
 CGGCGGCTGGAGGTTGTGCGCAACTGCATCTCCTACGTGTTTGAGGGGAAAATGCTTGAG       c.1740
 R  R  L  E  V  V  R  N  C  I  S  Y  V  F  E  G  K  M  L  E         p.580

           | 16        .         .         .         .         .    g.16654
 GCCAAGAAG | CTGCTCCCAGCCGTGTTGAGGGCCCTGAAGGGGCGAGCTGCCCGCCGCTGC    c.1800
 A  K  K   | L  L  P  A  V  L  R  A  L  K  G  R  A  A  R  R  C      p.600

          .         .         .         .         .         .       g.16714
 CTCGCCCAGGAGCTGCACCTGCATGTGCAGCAGAACCGTGCGGTCCTGGACCACCAGCAG       c.1860
 L  A  Q  E  L  H  L  H  V  Q  Q  N  R  A  V  L  D  H  Q  Q         p.620

          .         .         .          | 17        .         .    g.17118
 TTTGACTTTGTCGTCCGTATGATGAACTGCTGCCTGCAG | GACTGCACTTCTCTGGACGAG    c.1920
 F  D  F  V  V  R  M  M  N  C  C  L  Q   | D  C  T  S  L  D  E      p.640

          .         .         .         .         | 18         .    g.17330
 CATGGCATTGCGGCGGCTCTGCTGCCTCTGGTCACAGCCTTCTGCCGG | AAGCTGAGCCCG    c.1980
 H  G  I  A  A  A  L  L  P  L  V  T  A  F  C  R   | K  L  S  P      p.660

          .         .         .         .         .         .       g.17390
 GGGGTGACGCAGTTTGCATACAGCTGTGTGCAGGAGCACGTGGTGTGGAGCACGCCACAG       c.2040
 G  V  T  Q  F  A  Y  S  C  V  Q  E  H  V  V  W  S  T  P  Q         p.680

          .         .         .         .         .         .       g.17450
 TTCTGGGAGGCCATGTTCTATGGGGATGTGCAGACTCACATCCGGGCCCTCTACCTGGAG       c.2100
 F  W  E  A  M  F  Y  G  D  V  Q  T  H  I  R  A  L  Y  L  E         p.700

          .         .        | 19.         .         .         .    g.17595
 CCCACGGAGGACCTGGCCCCCGCCCAG | GAGGTTGGGGAGGCACCTTCCCAGGAGGACGAG    c.2160
 P  T  E  D  L  A  P  A  Q   | E  V  G  E  A  P  S  Q  E  D  E      p.720

          .         .         .         .         .         .       g.17655
 CGCTCTGCCCTAGACGTGGCTTCTGAGCAGCGGCGCTTGTGGCCAACTCTGAGTCGTGAG       c.2220
 R  S  A  L  D  V  A  S  E  Q  R  R  L  W  P  T  L  S  R  E         p.740

          .         .         .         .         .         .       g.17715
 AAGCAGCAGGAGCTGGTGCAGAAGGAGGAGAGCACGGTGTTCAGCCAGGCCATCCACTAT       c.2280
 K  Q  Q  E  L  V  Q  K  E  E  S  T  V  F  S  Q  A  I  H  Y         p.760

          .         .         .         .         .         .       g.17775
 GCCAACCGCATGAGCTACCTCCTCCTGCCCCTGGACAGCAGCAAGAGCCGCCTACTTCGG       c.2340
 A  N  R  M  S  Y  L  L  L  P  L  D  S  S  K  S  R  L  L  R         p.780

          .         .         .         .         .       | 20 .    g.17920
 GAGCGTGCCGGGCTGGGCGACCTGGAGAGCGCCAGCAACAGCCTGGTCACCAACAG | CATG    c.2400
 E  R  A  G  L  G  D  L  E  S  A  S  N  S  L  V  T  N  S  |  M      p.800

          .         .         .         .         .         .       g.17980
 GCTGGCAGTGTGGCCGAGAGCTATGACACGGAGAGCGGCTTCGAGGATGCAGAGACCTGC       c.2460
 A  G  S  V  A  E  S  Y  D  T  E  S  G  F  E  D  A  E  T  C         p.820

          .         .         .         .         .         .       g.18040
 GACGTAGCTGGGGCTGTGGTCCGCTTCATCAACCGCTTTGTGGACAAGGTCTGCACGGAG       c.2520
 D  V  A  G  A  V  V  R  F  I  N  R  F  V  D  K  V  C  T  E         p.840

          .         .         .         .          | 21        .    g.18177
 AGTGGGGTCACCAGCGACCACCTCAAGGGGCTGCATGTCATGGTGCCAG | ACATTGTCCAG    c.2580
 S  G  V  T  S  D  H  L  K  G  L  H  V  M  V  P  D |   I  V  Q      p.860

          .         .         .         .         .         .       g.18237
 ATGCACATCGAGACCCTGGAGGCCGTGCAGCGGGAGAGCCGGAGGCTGCCGCCCATCCAG       c.2640
 M  H  I  E  T  L  E  A  V  Q  R  E  S  R  R  L  P  P  I  Q         p.880

     | 22    .         .         .         .         .         .    g.18374
 AAG | CCCAAGCTGCTGCGGCCGCGCCTGCTGCCGGGTGAGGAGTGTGTGCTGGACGGCCTG    c.2700
 K   | P  K  L  L  R  P  R  L  L  P  G  E  E  C  V  L  D  G  L      p.900

          .         .         .         .         .         .       g.18434
 CGCGTCTACCTGCTGCCGGATGGGCGTGAGGAGGGCGCGGGGGGCAGTGCTGGGGGACCA       c.2760
 R  V  Y  L  L  P  D  G  R  E  E  G  A  G  G  S  A  G  G  P         p.920

          .         .         .         .         .         .       g.18494
 GCATTGCTCCCAGCTGAGGGCGCCGTCTTCCTCACCACGTACCGGGTCATCTTCACGGGG       c.2820
 A  L  L  P  A  E  G  A  V  F  L  T  T  Y  R  V  I  F  T  G         p.940

          .          | 23        .         .         .         .    g.18790
 ATGCCCACGGACCCCCTGG | TTGGGGAGCAGGTGGTGGTCCGCTCCTTCCCGGTGGCTGCG    c.2880
 M  P  T  D  P  L  V |   G  E  Q  V  V  V  R  S  F  P  V  A  A      p.960

          .         .         .         .         .         .       g.18850
 CTGACCAAGGAGAAGCGCATCAGCGTCCAGACCCCTGTGGACCAGCTCCTGCAGGACGGG       c.2940
 L  T  K  E  K  R  I  S  V  Q  T  P  V  D  Q  L  L  Q  D  G         p.980

          .         .        | 24.         .         .         .    g.19356
 CTCCAGCTGCGCTCCTGCACATTCCAG | CTGCTGAAAATGGCCTTTGACGAGGAGGTGGGG    c.3000
 L  Q  L  R  S  C  T  F  Q   | L  L  K  M  A  F  D  E  E  V  G      p.1000

          .         .         .         .         .         .       g.19416
 TCTGACAGCGCCGAGCTCTTCCGTAAGCAGCTGCATAAGCTGCGGTACCCGCCGGACATC       c.3060
 S  D  S  A  E  L  F  R  K  Q  L  H  K  L  R  Y  P  P  D  I         p.1020

          .         .         .         .         .         .       g.19476
 AGGGCCACCTTTGCGTTCACCTTGGGCTCTGCCCACACACCTGGCCGGCCACCGCGAGTC       c.3120
 R  A  T  F  A  F  T  L  G  S  A  H  T  P  G  R  P  P  R  V         p.1040

          .         .       | 25 .         .         .         .    g.19661
 ACCAAGGACAAGGGTCCTTCCCTCAG | AACCCTGTCCCGGAACCTGGTCAAGAACGCCAAG    c.3180
 T  K  D  K  G  P  S  L  R  |  T  L  S  R  N  L  V  K  N  A  K      p.1060

          .         .         .         .         .         .       g.19721
 AAGACCATCGGGCGGCAGCATGTCACTCGCAAGAAGTACAACCCCCCCAGCTGGGAGCAC       c.3240
 K  T  I  G  R  Q  H  V  T  R  K  K  Y  N  P  P  S  W  E  H         p.1080

          .         .         .         .    | 26    .         .    g.19893
 CGGGGCCAGCCGCCCCCTGAGGACCAGGAGGACGAGATCTCAG | TGTCGGAGGAGCTGGAG    c.3300
 R  G  Q  P  P  P  E  D  Q  E  D  E  I  S  V |   S  E  E  L  E      p.1100

          .         .         .         .         .         .       g.19953
 CCCAGCACGCTGACCCCGTCCTCAGCCCTGAAGCCCTCCGACCGCATGACCATGAGCAGC       c.3360
 P  S  T  L  T  P  S  S  A  L  K  P  S  D  R  M  T  M  S  S         p.1120

          .         .         .         .         .         .       g.20013
 CTGGTGGAAAGGGCTTGCTGTCGCGACTACCAGCGCCTCGGTCTGGGCACCCTGAGCAGC       c.3420
 L  V  E  R  A  C  C  R  D  Y  Q  R  L  G  L  G  T  L  S  S         p.1140

          .         .         .         .         .         .       g.20073
 AGCCTGAGCCGGGCCAAGTCTGAGCCCTTCCGCATTTCTCCGGTCAACCGCATGTATGCC       c.3480
 S  L  S  R  A  K  S  E  P  F  R  I  S  P  V  N  R  M  Y  A         p.1160

          .  | 27      .         .         .         .         .    g.20418
 ATCTGCCGCAG | CTACCCAGGGCTGCTGATCGTGCCCCAGAGTGTCCAGGACAACGCCCTG    c.3540
 I  C  R  S  |  Y  P  G  L  L  I  V  P  Q  S  V  Q  D  N  A  L      p.1180

          .         .         .         .         .         .       g.20478
 CAGCGCGTGTCCCGCTGCTACCGCCAGAACCGCTTCCCCGTGGTCTGCTGGCGCAGCGGG       c.3600
 Q  R  V  S  R  C  Y  R  Q  N  R  F  P  V  V  C  W  R  S  G         p.1200

          .         .         .         .         .         .       g.20538
 CGGTCCAAGGCGGTGCTGCTGCGCTCTGGAGGCCTGCATGGCAAAGGTGTCGTCGGCCTC       c.3660
 R  S  K  A  V  L  L  R  S  G  G  L  H  G  K  G  V  V  G  L         p.1220

          .         .         | 28         .         .         .    g.20675
 TTCAAGGCCCAGAACGCACCTTCTCCAG | GCCAGTCCCAGGCGGACTCGAGTAGCCTGGAG    c.3720
 F  K  A  Q  N  A  P  S  P  G |   Q  S  Q  A  D  S  S  S  L  E      p.1240

          .         .         .         .         .         .       g.20735
 CAGGAGAAGTACCTGCAGGCTGTGGTCAGCTCCATGCCCCGCTACGCCGACGCGTCGGGA       c.3780
 Q  E  K  Y  L  Q  A  V  V  S  S  M  P  R  Y  A  D  A  S  G         p.1260

          .         .         .         .       | 29 .         .    g.22938
 CGCAACACGCTTAGCGGCTTCTCCTCAGCCCACATGGGCAGTCACG | TTCCCAGCCCCAGA    c.3840
 R  N  T  L  S  G  F  S  S  A  H  M  G  S  H  V |   P  S  P  R      p.1280

          .         .         .         .         .         .       g.22998
 GCCAGGGTCACCACGCTGTCCAACCCCATGGCGGCCTCGGCCTCCAGACGGACCGCACCC       c.3900
 A  R  V  T  T  L  S  N  P  M  A  A  S  A  S  R  R  T  A  P         p.1300

      | 30   .         .         .         .         .         .    g.23418
 CGAG | GTAAGTGGGGCAGTGTCCGGACCAGTGGACGCAGCAGTGGCCTTGGCACCGATGTG    c.3960
 R  G |   K  W  G  S  V  R  T  S  G  R  S  S  G  L  G  T  D  V      p.1320

          .         .         .         .         .         .       g.23478
 GGCTCCCGGCTAGCTGGCAGAGACGCGCTGGCCCCACCCCAGGCCAACGGGGGCCCTCCC       c.4020
 G  S  R  L  A  G  R  D  A  L  A  P  P  Q  A  N  G  G  P  P         p.1340

          .         .         .         .         .         .       g.23538
 GACCCGGGCTTCCTGCGTCCGCAGCGAGCAGCCCTCTATATCCTTGGGGACAAAGCCCAG       c.4080
 D  P  G  F  L  R  P  Q  R  A  A  L  Y  I  L  G  D  K  A  Q         p.1360

        | 31 .         .         .         .         .         .    g.23694
 CTCAAG | GGTGTGCGGTCAGACCCCCTGCAGCAGTGGGAGCTGGTGCCCATTGAGGTATTC    c.4140
 L  K   | G  V  R  S  D  P  L  Q  Q  W  E  L  V  P  I  E  V  F      p.1380

          .         .         .         .         .         .       g.23754
 GAGGCACGGCAGGTGAAGGCTAGCTTCAAGAAGCTGCTGAAAGCATGTGTCCCAGGCTGC       c.4200
 E  A  R  Q  V  K  A  S  F  K  K  L  L  K  A  C  V  P  G  C         p.1400

          .         .         .         .         .         .       g.23814
 CCCGCTGCTGAGCCCAGCCCAGCCTCCTTCCTGCGCTCACTGGAGGACTCAGAGTGGCTG       c.4260
 P  A  A  E  P  S  P  A  S  F  L  R  S  L  E  D  S  E  W  L         p.1420

        | 32 .         .         .         .         .         .    g.24507
 ATCCAG | ATCCACAAGCTGCTGCAGGTGTCTGTGCTGGTGGTGGAGCTCCTGGATTCAGGC    c.4320
 I  Q   | I  H  K  L  L  Q  V  S  V  L  V  V  E  L  L  D  S  G      p.1440

          .         .         .         .         | 33         .    g.24638
 TCCTCCGTGCTGGTGGGCCTGGAGGATGGCTGGGACATCACCACCCAG | GTGGTATCCTTG    c.4380
 S  S  V  L  V  G  L  E  D  G  W  D  I  T  T  Q   | V  V  S  L      p.1460

          .         .         .         .         .         .       g.24698
 GTGCAGCTGCTCTCAGACCCCTTCTACCGCACGCTGGAGGGCTTTCGCCTGCTGGTGGAG       c.4440
 V  Q  L  L  S  D  P  F  Y  R  T  L  E  G  F  R  L  L  V  E         p.1480

          .         .         .         .         .         .       g.24758
 AAGGAGTGGCTGTCCTTCGGCCATCGCTTCAGCCACCGTGGAGCTCACACCCTGGCCGGG       c.4500
 K  E  W  L  S  F  G  H  R  F  S  H  R  G  A  H  T  L  A  G         p.1500

          .         .         .         .         .     | 34   .    g.24899
 CAGAGCAGCGGCTTCACACCCGTCTTCCTGCAGTTCCTGGACTGCGTACACCAG | GTCCAC    c.4560
 Q  S  S  G  F  T  P  V  F  L  Q  F  L  D  C  V  H  Q   | V  H      p.1520

          .         .         .         .         .         .       g.24959
 CTGCAGTTCCCCATGGAGTTTGAGTTCAGCCAGTTCTACCTCAAGTTCCTCGGCTACCAC       c.4620
 L  Q  F  P  M  E  F  E  F  S  Q  F  Y  L  K  F  L  G  Y  H         p.1540

          .         .         .         .         .         .       g.25019
 CATGTGTCCCGCCGTTTCCGGACCTTCCTGCTCGACTCTGACTATGAGCGCATTGAGCTG       c.4680
 H  V  S  R  R  F  R  T  F  L  L  D  S  D  Y  E  R  I  E  L         p.1560

   | 35      .         .         .         .         .         .    g.25150
 G | GGCTGCTGTATGAGGAGAAGGGGGAACGCAGGGGCCAGGTGCCGTGCAGGTCTGTGTGG    c.4740
 G |   L  L  Y  E  E  K  G  E  R  R  G  Q  V  P  C  R  S  V  W      p.1580

          .         .         .         .         .         .       g.25210
 GAGTATGTGGACCGGCTGAGCAAGAGGACGCCTGTGTTCCACAATTACATGTATGCGCCC       c.4800
 E  Y  V  D  R  L  S  K  R  T  P  V  F  H  N  Y  M  Y  A  P         p.1600

          .   | 36     .         .         .         .         .    g.25341
 GAGGACGCAGAG | GTCCTGCGGCCCTACAGCAACGTGTCCAACCTGAAGGTGTGGGACTTC    c.4860
 E  D  A  E   | V  L  R  P  Y  S  N  V  S  N  L  K  V  W  D  F      p.1620

          .         .         .         .         .         .       g.25401
 TACACTGAGGAGACGCTGGCCGAGGGCCCTCCCTATGACTGGGAACTGGCCCAGGGGCCC       c.4920
 Y  T  E  E  T  L  A  E  G  P  P  Y  D  W  E  L  A  Q  G  P         p.1640

          .         .         .         .         .         .       g.25461
 CCTGAACCCCCAGAGGAAGAACGGTCTGATGGAGGCGCTCCCCAGAGCAGGCGCCGCGTG       c.4980
 P  E  P  P  E  E  E  R  S  D  G  G  A  P  Q  S  R  R  R  V         p.1660

          .         .         .         .         .         .       g.25521
 GTGTGGCCCTGTTACGACAGCTGCCCGCGGGCCCAGCCTGACGCCATCTCACGCCTGCTG       c.5040
 V  W  P  C  Y  D  S  C  P  R  A  Q  P  D  A  I  S  R  L  L         p.1680

     | 37    .         .         .         .         .         .    g.31442
 GAG | GAGCTGCAGAGGCTGGAGACAGAGTTGGGCCAACCCGCTGAGCGCTGGAAGGACACC    c.5100
 E   | E  L  Q  R  L  E  T  E  L  G  Q  P  A  E  R  W  K  D  T      p.1700

          .         .         .         .         .  | 38      .    g.31600
 TGGGACCGGGTGAAGGCTGCACAGCGCCTCGAGGGCCGGCCAGACGGCCGT | GGCACCCCT    c.5160
 W  D  R  V  K  A  A  Q  R  L  E  G  R  P  D  G  R   | G  T  P      p.1720

          .         .         .         .         .         .       g.31660
 AGCTCCCTCCTTGTGTCCACCGCACCCCACCACCGTCGCTCGCTGGGTGTGTACCTGCAG       c.5220
 S  S  L  L  V  S  T  A  P  H  H  R  R  S  L  G  V  Y  L  Q         p.1740

          .         .         .         .         .         .       g.31720
 GAGGGGCCCGTGGGCTCCACCCTGAGCCTCAGCCTGGACAGCGACCAGAGTAGTGGCTCA       c.5280
 E  G  P  V  G  S  T  L  S  L  S  L  D  S  D  Q  S  S  G  S         p.1760

          .         .         .         .         .         .       g.31780
 ACCACATCCGGCTCCCGTCAGGCTGCCCGCCGCAGCACCAGCACCCTGTACAGCCAGTTC       c.5340
 T  T  S  G  S  R  Q  A  A  R  R  S  T  S  T  L  Y  S  Q  F         p.1780

          .         .    | 39    .         .         .         .    g.32463
 CAGACAGCAGAGAGTGAGAACAG | GTCCTACGAGGGCACTCTGTACAAGAAGGGGGCCTTC    c.5400
 Q  T  A  E  S  E  N  R  |  S  Y  E  G  T  L  Y  K  K  G  A  F      p.1800

          .         .         .         .         .  | 40      .    g.32591
 ATGAAGCCTTGGAAGGCCCGCTGGTTCGTGCTGGACAAGACCAAGCACCAG | CTGCGCTAC    c.5460
 M  K  P  W  K  A  R  W  F  V  L  D  K  T  K  H  Q   | L  R  Y      p.1820

          .         .         .         .         .         .       g.32651
 TACGACCACCGTGTGGACACAGAGTGCAAGGGTGTCATCGACTTGGCGGAGGTGGAGGCT       c.5520
 Y  D  H  R  V  D  T  E  C  K  G  V  I  D  L  A  E  V  E  A         p.1840

          .         .         .         .         .         .       g.32711
 GTGGCACCTGGCACGCCCACTATGGGTGCCCCTAAGACTGTGGACGAGAAGGCCTTCTTT       c.5580
 V  A  P  G  T  P  T  M  G  A  P  K  T  V  D  E  K  A  F  F         p.1860

     | 41    .         .         .         .         .         .    g.32852
 GAC | GTGAAGACAACGCGTCGCGTTTACAACTTCTGTGCCCAGGACGTGCCCTCGGCCCAG    c.5640
 D   | V  K  T  T  R  R  V  Y  N  F  C  A  Q  D  V  P  S  A  Q      p.1880

          .         .         .         .                           g.32894
 CAGTGGGTGGACCGGATCCAGAGCTGCCTGTCGGACGCCTGA                         c.5682
 Q  W  V  D  R  I  Q  S  C  L  S  D  A  X                           p.1893

          .         .         .         .         .         .       g.32954
 gcctcccagccctgcccggctgctctgcttccggtcgttaccgaccactaggggtgggca       c.*60

          .         .         .         .         .         .       g.33014
 gggccgccccggccatgtttacagccccggccctcgacagtattgaggccccgagccccc       c.*120

          .         .         .         .         .         .       g.33074
 agcacttgtgtgtacagcccccgtccccgccccgccccgcccggccggccctaacttatt       c.*180

          .         .         .         .         .         .       g.33134
 ttggcgtcacagctgagcaccgtgccgggaggtggccaaggtacagcccgcaatgggcct       c.*240

          .         .         .         .         .         .       g.33194
 gtaaatagtccggccccgtcagcgtgtgctggtccagccagcggctgcaggcgagtttct       c.*300

          .         .         .         .         .         .       g.33254
 agaaccagagtctatataaagagagaactaacgccacgctcctgtgcctgccttccccac       c.*360

          .         .         .         .         .         .       g.33314
 tccccggctgcctgctctcggcctacccagagggtcccatctgcccctatccaggcccac       c.*420

          .         .         .         .         .         .       g.33374
 ctggcgggaggttggcatctttctcgtgagcctctcctggtgcctgggtccacccagctc       c.*480

          .         .         .         .         .         .       g.33434
 ggcctgcatgtccctgggagtgactttgctctgggggcggatcgagcaggaggcttcact       c.*540

          .         .         .         .         .         .       g.33494
 ggggacttgcttgattccctccacgcctcagggctggtctaggggccggcacggctggag       c.*600

          .         .         .         .         .         .       g.33554
 aggaagcccccatccctacccaggggatgcagaagctgacctcacagaggcttgggggtg       c.*660

          .         .         .         .         .         .       g.33614
 aaagggtgggtggtcatttgaccccagaaggctgttgcaggtccagaggacacttgaggt       c.*720

          .         .         .         .         .         .       g.33674
 ggacgtcagtttctggctagacccgagctgaagggatggaggccggaggcgggggggggg       c.*780

          .         .         .         .         .         .       g.33734
 gggggacagtgggctcccaggggaatgcaggttgaccacatctggctcctgccaggcaac       c.*840

          .         .         .         .         .         .       g.33794
 gagcagcatctggcagagtaaggggccaacgcccatgggggatggaccctctcagttctt       c.*900

          .         .         .         .         .         .       g.33854
 gggaattctgccccaaaagtcctttccctggggtctcagagggcccccgtccttcccttc       c.*960

          .         .         .         .         .         .       g.33914
 ttggtgtcactgtggcccctcactgctcttttcctattcaaacctgagtcccaccaggcc       c.*1020

          .         .         .         .         .         .       g.33974
 cagggcttcacctgctgagctgttgtgtccttgcctgtgacgaggcctggccaggggtgc       c.*1080

          .         .         .         .         .         .       g.34034
 aggagcagaaggtggggagggttatagacgctgcaaaggccaagagaacatctgagagtg       c.*1140

          .         .         .         .         .         .       g.34094
 gcagctggtgacctggccagaggggctggtgaggggcagagaacctggctagaggctggg       c.*1200

          .         .         .         .         .         .       g.34154
 tccctcaggtggtcctctcaggtgggaggcgagcagcaggtgtgggtgaggggaaggttc       c.*1260

          .         .         .         .         .         .       g.34214
 tgatgacagctgcagaggcagggcccagtgctggcaggtggggggccaagaccctcccct       c.*1320

          .         .         .         .         .         .       g.34274
 ggtgggacgttgaagccaaggatggccttggaccctgtcaggcccagcatggtcccgcca       c.*1380

          .         .         .         .         .         .       g.34334
 cctcccccaccccacaggtggtgttgggacacctgggcgagatgtgagggtgggctcact       c.*1440

          .         .         .         .         .         .       g.34394
 tgagccactgaaaccagccaggtcttccctcaggccggacagatggcgcctgaccgaagt       c.*1500

          .         .         .         .         .         .       g.34454
 tcctggcacctggaaaacccacaggtcagagtaaggggagaaaggaccctgccctccctg       c.*1560

          .         .         .         .         .         .       g.34514
 ttccacgtctgtggggggagaggacaaatgccaggcacagggtaggcggcgagaacaagg       c.*1620

          .         .         .         .         .         .       g.34574
 cactcaatgtgtagctggggcagagactcggcctctggggagctgagcgggttccctcca       c.*1680

          .         .         .         .         .         .       g.34634
 cccccaaccgtggtggaaagacaagctcgctggggcggggtgggggtctggtctccacct       c.*1740

          .         .         .         .         .         .       g.34694
 gcccctcccactcagccactgaggacaaggtggggcccaggcttctgggagggggagctg       c.*1800

          .         .         .         .         .         .       g.34754
 gcacaaaaggaagtcctggggttgatgtgtttgagcgttaggcgaagtggttccccccat       c.*1860

          .         .         .         .         .         .       g.34814
 cccccaaacggaaaaatgtcagtatttgctaagctgtagagacctgatgccgtgatgtgg       c.*1920

          .         .         .         .         .         .       g.34874
 cctgttccgcctccacccattacacggggataacgctggggggtggcgggcccacaaaag       c.*1980

          .         .         .         .         .         .       g.34934
 aggtgctggaggagactctcccacccctggccgggccggggctttggggccggaaggttc       c.*2040

          .         .         .         .         .         .       g.34994
 acagtacgcggtttgtccgaacgtcacggcttttattgggagttgggggtttggggtgcc       c.*2100

          .         .         .         .                           g.35036
 ctgtcaggtgatcagaacattaaaaatggactcaacgtaaaa                         c.*2142

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The SET binding factor 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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