UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1) - coding DNA reference sequence

(used for variant description)

(last modified May 5, 2025)


This file was created to facilitate the description of sequence variants on transcript NM_020120.3 in the UGGT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering UGGT1 transcript NM_020120.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5058
   gaagtaaaagggcggccggcagctgggcaattgctttgcgaggctgggtgttgagtcg       c.-121

 .         .         .         .         .         .                g.5118
 agccgcgggaaaggcgcgtgtcggcctctcactggcgcagcctgcactgccgctgccgcc       c.-61

 .         .         .         .         .         .                g.5178
 tcgccccgccctgccctggcgttgtctctggcactgtggcggactgaccacggcccgggc       c.-1

          .         .         .         .         .         | 02    g.11251
 ATGGGCTGCAAGGGAGACGCGAGCGGTGCGTGTGCCGCGGGTGCGCTGCCGGTGACAG | GA    c.60
 M  G  C  K  G  D  A  S  G  A  C  A  A  G  A  L  P  V  T  G |       p.20

          .         .         .         .         .         .       g.11311
 GTTTGCTATAAAATGGGAGTTCTGGTTGTACTCACTGTTCTGTGGCTGTTCTCCTCAGTA       c.120
 V  C  Y  K  M  G  V  L  V  V  L  T  V  L  W  L  F  S  S  V         p.40

          .         .         .         .         .         .       g.11371
 AAGGCCGACTCAAAAGCCATTACAACCTCTCTTACAACAAAATGGTTTTCCACTCCATTG       c.180
 K  A  D  S  K  A  I  T  T  S  L  T  T  K  W  F  S  T  P  L         p.60

          .     | 03   .         .         .         .         .    g.17798
 TTGTTAGAAGCCAG | TGAGTTTTTAGCAGAAGACAGTCAAGAGAAATTTTGGAATTTTGTA    c.240
 L  L  E  A  S  |  E  F  L  A  E  D  S  Q  E  K  F  W  N  F  V      p.80

          .         .         .        | 04.         .         .    g.21781
 GAAGCCAGTCAAAATATTGGATCATCAGATCATGACG | GTACCGATTATTCCTACTATCAT    c.300
 E  A  S  Q  N  I  G  S  S  D  H  D  G |   T  D  Y  S  Y  Y  H      p.100

          .         .         .         .         .         .       g.21841
 GCAATATTGGAGGCTGCATTTCAGTTTCTGTCACCCCTCCAGCAGAATTTGTTTAAATTT       c.360
 A  I  L  E  A  A  F  Q  F  L  S  P  L  Q  Q  N  L  F  K  F         p.120

          .         .         .         .         | 05         .    g.23466
 TGTCTGTCCCTTCGTTCTTACTCAGCTACAATCCAAGCCTTCCAGCAG | ATAGCAGCTGAT    c.420
 C  L  S  L  R  S  Y  S  A  T  I  Q  A  F  Q  Q   | I  A  A  D      p.140

          .         .         .         .         .         .       g.23526
 GAACCTCCACCAGAAGGATGTAATTCGTTTTTTTCAGTGCATGGAAAGAAGACTTGTGAA       c.480
 E  P  P  P  E  G  C  N  S  F  F  S  V  H  G  K  K  T  C  E         p.160

          .         .         .         .  | 06      .         .    g.26923
 TCTGATACCCTTGAGGCTCTTCTACTGACAGCCTCTGAAAG | ACCCAAACCTTTATTGTTC    c.540
 S  D  T  L  E  A  L  L  L  T  A  S  E  R  |  P  K  P  L  L  F      p.180

          .         .         .         .         .         .       g.26983
 AAAGGAGATCACAGATATCCCTCGTCTAATCCTGAAAGCCCTGTGGTGATTTTCTACTCT       c.600
 K  G  D  H  R  Y  P  S  S  N  P  E  S  P  V  V  I  F  Y  S         p.200

          .         .         .         .         .         .       g.27043
 GAGATTGGCTCTGAGGAATTTTCCAATTTTCACCGCCAGCTTATATCAAAAAGCAATGCA       c.660
 E  I  G  S  E  E  F  S  N  F  H  R  Q  L  I  S  K  S  N  A         p.220

          .         .         .       | 07 .         .         .    g.28968
 GGCAAAATCAATTATGTATTCAGACATTATATATTT | AATCCCAGGAAGGAGCCTGTTTAC    c.720
 G  K  I  N  Y  V  F  R  H  Y  I  F   | N  P  R  K  E  P  V  Y      p.240

          .         .         .         .         .         .       g.29028
 CTCTCTGGCTATGGCGTGGAATTGGCCATTAAGAGCACTGAGTACAAGGCCAAGGATGAT       c.780
 L  S  G  Y  G  V  E  L  A  I  K  S  T  E  Y  K  A  K  D  D         p.260

          .    | 08    .         .         .         .         .    g.30132
 ACTCAGGTGAAAG | GAACTGAGGTAAACACCACAGTGATTGGTGAAAATGATCCTATTGAT    c.840
 T  Q  V  K  G |   T  E  V  N  T  T  V  I  G  E  N  D  P  I  D      p.280

          .         .         .   | 09     .         .         .    g.34204
 GAGGTTCAGGGGTTCCTCTTTGGAAAATTAAG | AGATCTGCACCCCGACCTGGAGGGACAG    c.900
 E  V  Q  G  F  L  F  G  K  L  R  |  D  L  H  P  D  L  E  G  Q      p.300

          .         .         .         .         .         .       g.34264
 TTGAAAGAACTCAGAAAGCATCTTGTAGAGAGCACCAATGAAATGGCACCTTTAAAGGTT       c.960
 L  K  E  L  R  K  H  L  V  E  S  T  N  E  M  A  P  L  K  V         p.320

          .    | 10    .         .         .         .         .    g.35066
 TGGCAGTTGCAAG | ATCTCAGTTTCCAGACTGCTGCTCGAATCTTGGCTTCTCCTGTTGAG    c.1020
 W  Q  L  Q  D |   L  S  F  Q  T  A  A  R  I  L  A  S  P  V  E      p.340

          .         .         .         .         .    | 11    .    g.37013
 TTGGCTTTGGTTGTCATGAAGGATCTTAGTCAGAATTTTCCTACCAAAGCCAG | AGCAATA    c.1080
 L  A  L  V  V  M  K  D  L  S  Q  N  F  P  T  K  A  R  |  A  I      p.360

          .         .         .         .         .     | 12   .    g.41187
 ACAAAAACAGCTGTGAGCTCAGAACTTAGAACCGAAGTGGAAGAGAATCAGAAG | TATTTC    c.1140
 T  K  T  A  V  S  S  E  L  R  T  E  V  E  E  N  Q  K   | Y  F      p.380

          .         .         .         .         .         .       g.41247
 AAGGGAACTTTAGGATTACAACCTGGAGATTCAGCCCTCTTCATCAATGGACTTCACATG       c.1200
 K  G  T  L  G  L  Q  P  G  D  S  A  L  F  I  N  G  L  H  M         p.400

          .         .       | 13 .         .         .         .    g.42883
 GATTTAGATACACAGGATATATTCAG | TCTGTTTGATGTGTTGAGGAATGAAGCTCGGGTA    c.1260
 D  L  D  T  Q  D  I  F  S  |  L  F  D  V  L  R  N  E  A  R  V      p.420

          .         .         .         .         .         .       g.42943
 ATGGAGGGTCTGCATAGATTGGGAATAGAAGGCCTTTCTCTGCATAATGTTTTGAAGCTG       c.1320
 M  E  G  L  H  R  L  G  I  E  G  L  S  L  H  N  V  L  K  L         p.440

          .         .         .         .         .        | 14.    g.46964
 AACATCCAGCCCTCTGAGGCAGACTATGCCGTAGACATCCGGAGTCCTGCTATTTCA | TGG    c.1380
 N  I  Q  P  S  E  A  D  Y  A  V  D  I  R  S  P  A  I  S   | W      p.460

          .         .         .         .         .         .       g.47024
 GTCAACAACCTGGAGGTTGATAGCAGATATAATTCGTGGCCTTCTAGTTTACAAGAGTTG       c.1440
 V  N  N  L  E  V  D  S  R  Y  N  S  W  P  S  S  L  Q  E  L         p.480

          .         .         .         .         .        | 15.    g.48699
 CTTCGACCCACCTTTCCTGGTGTTATTCGGCAGATCAGGAAAAACTTACATAATATG | GTT    c.1500
 L  R  P  T  F  P  G  V  I  R  Q  I  R  K  N  L  H  N  M   | V      p.500

          .         .         .         .         .         .       g.48759
 TTCATAGTTGATCCTGCACATGAGACCACAGCAGAGTTGATGAACACAGCTGAGATGTTC       c.1560
 F  I  V  D  P  A  H  E  T  T  A  E  L  M  N  T  A  E  M  F         p.520

          .         .    | 16    .         .         .         .    g.52574
 CTTAGTAATCATATACCACTAAG | AATTGGTTTTATCTTTGTGGTTAATGACTCTGAAGAT    c.1620
 L  S  N  H  I  P  L  R  |  I  G  F  I  F  V  V  N  D  S  E  D      p.540

          .         .         .         .         .         .       g.52634
 GTTGATGGGATGCAAGATGCTGGAGTGGCTGTTCTTAGAGCATATAATTATGTTGCCCAA       c.1680
 V  D  G  M  Q  D  A  G  V  A  V  L  R  A  Y  N  Y  V  A  Q         p.560

          .         .         .          | 17        .         .    g.56935
 GAAGTGGATGATTATCATGCCTTCCAGACTCTGACACAT | ATCTATAACAAGGTGAGGACT    c.1740
 E  V  D  D  Y  H  A  F  Q  T  L  T  H   | I  Y  N  K  V  R  T      p.580

          .         .         .         .         .         .       g.56995
 GGAGAAAAAGTGAAAGTTGAACATGTGGTCAGTGTCCTGGAGAAGAAATATCCGTATGTA       c.1800
 G  E  K  V  K  V  E  H  V  V  S  V  L  E  K  K  Y  P  Y  V         p.600

          .         .         .         .         .  | 18      .    g.59632
 GAAGTGAATAGCATTTTGGGGATTGATTCTGCTTATGATCGGAATCGGAAG | GAAGCAAGA    c.1860
 E  V  N  S  I  L  G  I  D  S  A  Y  D  R  N  R  K   | E  A  R      p.620

          .         .         .         .         .         .       g.59692
 GGCTACTATGAGCAGACTGGAGTTGGACCTCTGCCCGTTGTGCTGTTCAATGGAATGCCC       c.1920
 G  Y  Y  E  Q  T  G  V  G  P  L  P  V  V  L  F  N  G  M  P         p.640

          .         .         .         .         .         .       g.59752
 TTTGAAAGGGAACAGCTAGACCCTGATGAGTTAGAAACCATCACAATGCATAAAATCCTG       c.1980
 F  E  R  E  Q  L  D  P  D  E  L  E  T  I  T  M  H  K  I  L         p.660

          .         .         .       | 19 .         .         .    g.66628
 GAGACCACCACCTTCTTCCAAAGAGCGGTGTACTTG | GGTGAACTGCCCCATGATCAAGAT    c.2040
 E  T  T  T  F  F  Q  R  A  V  Y  L   | G  E  L  P  H  D  Q  D      p.680

          .         .         .         .         .         .       g.66688
 GTGGTAGAGTATATCATGAATCAGCCAAATGTTGTTCCACGAATCAATTCTAGGATTTTG       c.2100
 V  V  E  Y  I  M  N  Q  P  N  V  V  P  R  I  N  S  R  I  L         p.700

          .         .         .        | 20.         .         .    g.69332
 ACAGCTGAACGAGACTACCTGGATTTAACAGCGAGTA | ATAACTTCTTTGTGGATGATTAT    c.2160
 T  A  E  R  D  Y  L  D  L  T  A  S  N |   N  F  F  V  D  D  Y      p.720

          .         .         .         .         .         .       g.69392
 GCTAGATTTACTATCTTGGATTCCCAAGGCAAGACTGCTGCTGTAGCCAATAGTATGAAC       c.2220
 A  R  F  T  I  L  D  S  Q  G  K  T  A  A  V  A  N  S  M  N         p.740

          .       | 21 .         .         . | 22       .         . g.71092
 TATCTGACAAAGAAAG | GAATGTCCTCCAAGGAAATCTATG | ATGATTCTTTTATTAGGCCA c.2280
 Y  L  T  K  K  G |   M  S  S  K  E  I  Y  D |   D  S  F  I  R  P   p.760

          .         .         .         .         .         .       g.71152
 GTAACTTTTTGGATTGTTGGGGATTTTGATAGCCCTTCTGGACGGCAGTTACTGTATGAT       c.2340
 V  T  F  W  I  V  G  D  F  D  S  P  S  G  R  Q  L  L  Y  D         p.780

          .      | 23  .         .         .         .         .    g.73379
 GCCATCAAACATCAG | AAATCCAGTAACAATGTTAGAATAAGCATGATCAATAATCCTGCC    c.2400
 A  I  K  H  Q   | K  S  S  N  N  V  R  I  S  M  I  N  N  P  A      p.800

          .         .         .         .         .         .       g.73439
 AAAGAGATAAGCTATGAGAACACTCAGATCTCCAGAGCAATCTGGGCAGCTCTCCAAACT       c.2460
 K  E  I  S  Y  E  N  T  Q  I  S  R  A  I  W  A  A  L  Q  T         p.820

          .         .         .         .         .         .       g.73499
 CAGACTTCCAACGCTGCTAAGAACTTCATCACCAAAATGGCCAAGGAGGGGGCTGCAGAG       c.2520
 Q  T  S  N  A  A  K  N  F  I  T  K  M  A  K  E  G  A  A  E         p.840

          .         .         .         .   | 24     .         .    g.74298
 GCCCTGGCTGCAGGAGCTGACATTGCGGAGTTCTCTGTTGGG | GGAATGGATTTCAGTCTT    c.2580
 A  L  A  A  G  A  D  I  A  E  F  S  V  G   | G  M  D  F  S  L      p.860

          .         .         .         .         .         .       g.74358
 TTTAAAGAGGTCTTTGAGTCTTCCAAAATGGATTTCATTTTGTCTCATGCCGTGTACTGC       c.2640
 F  K  E  V  F  E  S  S  K  M  D  F  I  L  S  H  A  V  Y  C         p.880

          .         .         .         .         .     | 25   .    g.74964
 AGGGATGTTCTGAAGCTGAAGAAGGGACAGAGGGCAGTGATCAGCAATGGAAGG | ATCATT    c.2700
 R  D  V  L  K  L  K  K  G  Q  R  A  V  I  S  N  G  R   | I  I      p.900

          .         .         .         .         .         .       g.75024
 GGGCCACTGGAGGATAGTGAGCTCTTTAATCAAGACGATTTCCACCTCCTCGAAAATATC       c.2760
 G  P  L  E  D  S  E  L  F  N  Q  D  D  F  H  L  L  E  N  I         p.920

          .         .         .         .         .         .       g.75084
 ATCTTAAAAACCTCAGGACAGAAAATAAAATCTCATATTCAACAGCTTCGGGTAGAAGAA       c.2820
 I  L  K  T  S  G  Q  K  I  K  S  H  I  Q  Q  L  R  V  E  E         p.940

       | 26  .         .         .         .         .         .    g.78605
 GATGT | GGCAAGCGACTTGGTAATGAAGGTGGATGCTCTTCTGTCAGCGCAACCAAAAGGA    c.2880
 D  V  |  A  S  D  L  V  M  K  V  D  A  L  L  S  A  Q  P  K  G      p.960

          .         .         .         .  | 27      .         .    g.84127
 GATCCAAGAATCGAGTACCAGTTTTTTGAAGACAGACACAG | TGCAATCAAACTGAGGCCG    c.2940
 D  P  R  I  E  Y  Q  F  F  E  D  R  H  S  |  A  I  K  L  R  P      p.980

          .         .         .         .         .         .       g.84187
 AAGGAAGGGGAGACATACTTTGATGTTGTGGCTGTCGTTGACCCTGTCACCAGAGAAGCA       c.3000
 K  E  G  E  T  Y  F  D  V  V  A  V  V  D  P  V  T  R  E  A         p.1000

          .         .     | 28   .         .         .         .    g.85061
 CAGAGACTTGCTCCTTTGCTCTTG | GTTTTGGCTCAGCTGATAAACATGAATCTGAGAGTA    c.3060
 Q  R  L  A  P  L  L  L   | V  L  A  Q  L  I  N  M  N  L  R  V      p.1020

          .         .         .         .     | 29   .         .    g.86409
 TTTATGAACTGCCAATCCAAACTTTCTGACATGCCTTTAAAAAG | CTTTTACCGTTATGTC    c.3120
 F  M  N  C  Q  S  K  L  S  D  M  P  L  K  S  |  F  Y  R  Y  V      p.1040

          .         .         .         .         .         .       g.86469
 TTAGAACCAGAGATTTCTTTCACTTCAGACAATAGTTTTGCTAAGGGTCCAATCGCAAAA       c.3180
 L  E  P  E  I  S  F  T  S  D  N  S  F  A  K  G  P  I  A  K         p.1060

          .         .         .         .         .         .       g.86529
 TTTTTGGATATGCCTCAGTCTCCACTGTTCACTCTGAATTTGAACACACCTGAGAGCTGG       c.3240
 F  L  D  M  P  Q  S  P  L  F  T  L  N  L  N  T  P  E  S  W         p.1080

          .         .         .         .         .     | 30   .    g.87607
 ATGGTAGAATCTGTCAGAACACCATATGATCTTGATAATATTTATTTAGAAGAG | GTGGAC    c.3300
 M  V  E  S  V  R  T  P  Y  D  L  D  N  I  Y  L  E  E   | V  D      p.1100

          .         .         .         .         .         .       g.87667
 AGTGTAGTGGCTGCTGAGTATGAGCTGGAATACCTGTTACTGGAAGGTCATTGCTACGAC       c.3360
 S  V  V  A  A  E  Y  E  L  E  Y  L  L  L  E  G  H  C  Y  D         p.1120

          .         .         .         .         .         .       g.87727
 ATCACCACAGGCCAGCCTCCACGGGGACTACAGTTTACCTTAGGAACTTCAGCCAACCCG       c.3420
 I  T  T  G  Q  P  P  R  G  L  Q  F  T  L  G  T  S  A  N  P         p.1140

          .         .         .    | 31    .         .         .    g.88620
 GTCATTGTGGACACCATTGTTATGGCCAATCTG | GGCTACTTTCAGCTGAAAGCCAACCCA    c.3480
 V  I  V  D  T  I  V  M  A  N  L   | G  Y  F  Q  L  K  A  N  P      p.1160

          .         .         .         .         .          | 32    g.90635
 GGAGCTTGGATCCTCAGACTTAGGAAGGGACGCTCTGAAGATATTTATAGAATTTACAG | C    c.3540
 G  A  W  I  L  R  L  R  K  G  R  S  E  D  I  Y  R  I  Y  S  |      p.1180

          .         .         .         .         .         .       g.90695
 CACGATGGCACTGATTCTCCCCCTGATGCTGATGAGGTGGTTATCGTCCTCAACAACTTC       c.3600
 H  D  G  T  D  S  P  P  D  A  D  E  V  V  I  V  L  N  N  F         p.1200

          .         .     | 33   .         .         .         .    g.91688
 AAAAGCAAAATTATTAAAGTGAAG | GTTCAGAAGAAGGCAGATATGGTGAACGAAGACTTG    c.3660
 K  S  K  I  I  K  V  K   | V  Q  K  K  A  D  M  V  N  E  D  L      p.1220

          .         .         .         .         .    | 34    .    g.92295
 CTGAGTGATGGAACGAGTGAGAATGAATCTGGATTTTGGGATTCCTTCAAATG | GGGCTTT    c.3720
 L  S  D  G  T  S  E  N  E  S  G  F  W  D  S  F  K  W  |  G  F      p.1240

          .         .         .         .         .         .       g.92355
 ACAGGACAGAAGACTGAGGAAGTGAAGCAAGATAAAGATGACATAATTAATATTTTCTCC       c.3780
 T  G  Q  K  T  E  E  V  K  Q  D  K  D  D  I  I  N  I  F  S         p.1260

          .         .         .      | 35  .         .         .    g.93631
 GTTGCATCTGGTCATCTCTACGAAAGATTTCTTCG | CATAATGATGCTATCCGTGCTGAAG    c.3840
 V  A  S  G  H  L  Y  E  R  F  L  R  |  I  M  M  L  S  V  L  K      p.1280

          .         .         .         .         .         .       g.93691
 AATACCAAGACTCCTGTGAAATTCTGGTTCTTGAAGAATTACTTGTCCCCCACATTTAAG       c.3900
 N  T  K  T  P  V  K  F  W  F  L  K  N  Y  L  S  P  T  F  K         p.1300

  | 36       .         .         .         .         .         .    g.94770
  | GAGTTTATACCTTACATGGCAAATGAATACAATTTCCAGTATGAGCTTGTTCAGTACAAA    c.3960
  | E  F  I  P  Y  M  A  N  E  Y  N  F  Q  Y  E  L  V  Q  Y  K      p.1320

          .         .         .         .         .         .       g.94830
 TGGCCCCGGTGGCTTCATCAACAAACTGAAAAACAGCGTATCATCTGGGGTTACAAGATC       c.4020
 W  P  R  W  L  H  Q  Q  T  E  K  Q  R  I  I  W  G  Y  K  I         p.1340

          .         .         .         .         .         .       g.94890
 CTCTTCCTGGATGTACTTTTCCCACTAGTTGTTGACAAGTTCCTGTTTGTGGATGCTGAT       c.4080
 L  F  L  D  V  L  F  P  L  V  V  D  K  F  L  F  V  D  A  D         p.1360

     | 37    .         .         .         .         .         .    g.96007
 CAG | ATTGTACGAACAGATCTGAAAGAGTTAAGAGATTTCAATTTGGATGGTGCTCCTTAT    c.4140
 Q   | I  V  R  T  D  L  K  E  L  R  D  F  N  L  D  G  A  P  Y      p.1380

          .         .         .         .         .         .       g.96067
 GGTTACACTCCTTTCTGTGACAGCCGAAGAGAAATGGACGGCTACAGGTTCTGGAAGTCA       c.4200
 G  Y  T  P  F  C  D  S  R  R  E  M  D  G  Y  R  F  W  K  S         p.1400

          .         .         .         .     | 38   .         .    g.97511
 GGGTACTGGGCCAGTCATTTAGCCGGGCGAAAGTATCATATCAG | TGCACTATATGTTGTG    c.4260
 G  Y  W  A  S  H  L  A  G  R  K  Y  H  I  S  |  A  L  Y  V  V      p.1420

          .         .         .         .         .         .       g.97571
 GATCTGAAGAAGTTTAGGAAAATAGCTGCTGGTGACAGACTCAGGGGACAGTACCAAGGT       c.4320
 D  L  K  K  F  R  K  I  A  A  G  D  R  L  R  G  Q  Y  Q  G         p.1440

          .         .         .          | 39        .         .    g.100524
 CTGAGTCAGGACCCTAACAGCCTTTCAAATCTTGATCAA | GATCTGCCCAATAACATGATT    c.4380
 L  S  Q  D  P  N  S  L  S  N  L  D  Q   | D  L  P  N  N  M  I      p.1460

          .         .         .         .         .         .       g.100584
 CATCAGGTGCCAATTAAATCCCTCCCTCAAGAATGGCTTTGGTGTGAAACGTGGTGTGAT       c.4440
 H  Q  V  P  I  K  S  L  P  Q  E  W  L  W  C  E  T  W  C  D         p.1480

          .         .         .       | 40 .         .         .    g.101293
 GACGCCTCTAAGAAAAGGGCAAAAACCATTGATTTG | TGTAATAATCCGATGACCAAAGAG    c.4500
 D  A  S  K  K  R  A  K  T  I  D  L   | C  N  N  P  M  T  K  E      p.1500

          .         .         .         .         .         .       g.101353
 CCGAAACTGGAAGCAGCTGTGCGGATTGTCCCGGAGTGGCAGGACTACGACCAAGAGATC       c.4560
 P  K  L  E  A  A  V  R  I  V  P  E  W  Q  D  Y  D  Q  E  I         p.1520

          .         .         .         .         .         .       g.101413
 AAACAGCTACAGATCCGCTTTCAGAAGGAGAAAGAAACGGGAGCACTGTACAAAGAGAAG       c.4620
 K  Q  L  Q  I  R  F  Q  K  E  K  E  T  G  A  L  Y  K  E  K         p.1540

          .         .   | 41     .         .                        g.103575
 ACAAAAGAACCAAGCCGAGAAG | GTCCTCAGAAACGTGAAGAATTATGA                c.4668
 T  K  E  P  S  R  E  G |   P  Q  K  R  E  E  L  X                  p.1555

          .         .         .         .         .         .       g.103635
 tctctggagaaggacaggaaatcaccccatttgaaaaacagtttttataataaatgctag       c.*60

          .         .         .         .         .         .       g.103695
 ttttttctgatctgtctatacaactgctgataagccggctgggcaggagtgccacacctt       c.*120

          .         .         .         .         .         .       g.103755
 ttgattctgagcatttgattctgacttctgtactctggtggccactggatctttgggatt       c.*180

          .         .         .         .         .         .       g.103815
 aaagctctgttggatttgtacctcagaggaagaccaagtggctgatcctttggactctgt       c.*240

          .         .         .         .         .         .       g.103875
 aaagagcattcttctagtcagagggtggaatggcagcagcaactggaagaaaatgagttt       c.*300

          .         .         .         .         .         .       g.103935
 tttggtgcccacacccaagagcacacacatgctgcactgtctcggaaagcagggccagct       c.*360

          .         .         .         .         .         .       g.103995
 agagccaccatgttcttccttacctcagtttacctgcggcctgcgctgcactgcagatgc       c.*420

          .         .         .         .         .         .       g.104055
 ccaccctgccctgggtctggccggcggaagctctgtccaaggtccacacacctccaggtt       c.*480

          .         .         .         .         .         .       g.104115
 tacgccaacatccttgtgccctccccaccttctcttccaacgcattaggtgcattgttta       c.*540

          .         .         .         .         .         .       g.104175
 attgaaatccaaccaacaattgtgtgtcaaggctggtttggtgcagtggctgggcaaatt       c.*600

          .         .         .         .         .         .       g.104235
 aattttgggccaggatgggggtgggttgcagtgagggtagggaaaatgtcaggagtagga       c.*660

          .         .         .         .         .         .       g.104295
 aggttcgggggttaagggaagggaaggaagaccagaactggccatcctcttttataatcc       c.*720

          .         .         .         .         .         .       g.104355
 attagtagcaccatggctcatttgaaatgaaaatattacacttattccccacccaaccgc       c.*780

          .         .         .         .         .         .       g.104415
 agtgaactttctaggtaattgttttgaaaacaatttttgtatctgtgaaagtctttgctt       c.*840

          .         .         .         .         .         .       g.104475
 tttctttccaccttctagaaaagtctgctaccagtttccttactgaatacagccatactc       c.*900

          .         .         .         .         .         .       g.104535
 agcccctctcgcatccagcccgtcagggtcagggtcagggtcaggctccctcaagacgag       c.*960

          .         .         .         .         .         .       g.104595
 caccgcattgtctgccctcttttgcgtaggatttttctctcagacccaggggacattgcc       c.*1020

          .         .         .         .         .         .       g.104655
 ttggacttttctctacaaatgccctcagatgtaagaccagaaatgattctgcttgtggaa       c.*1080

          .         .         .         .         .         .       g.104715
 ctcgtggctttctgtcctattttccttttatgtgagccctgcaggttgcctttggcgccc       c.*1140

          .         .         .         .         .         .       g.104775
 acaccagttctgtcttcatgtcgctgcatcgtgaagccccatttgcctttagtccctgct       c.*1200

          .         .         .         .         .         .       g.104835
 ttgtgtgtcttcacttccacagccagtgttgcccctcagggcatactttgctggtgaacg       c.*1260

          .         .         .         .         .         .       g.104895
 ggctgtagagtcttgagtatgttattggcctaagtgggcatgaggccccagcatccgact       c.*1320

          .         .         .         .         .         .       g.104955
 ccatctgccaggctgcagggcacagcagcactggcatagacaggcacgctctgtcttcca       c.*1380

          .         .         .         .         .         .       g.105015
 acgtgcaccagccttttcttacatattttgcctgtttttaaaaaatacgaggagagggtg       c.*1440

          .         .         .         .         .         .       g.105075
 cagatggatactgtgccctcaccctcctaagccaggtaatatattgatgtgcagactttt       c.*1500

          .         .         .         .         .         .       g.105135
 aagaaatcttagtcttatcacaaatatcaagtaatttattttttccattttcaaatgcaa       c.*1560

          .         .         .         .         .         .       g.105195
 aagttagcctaggaagcctcccagtcatcctgaaggaccttttgactttgcttttataat       c.*1620

          .         .         .         .         .         .       g.105255
 tctgttaaaaattgaggaggggattaatgagtacaatgaaaacaaaacaaaacaaaaaat       c.*1680

          .         .         .         .         .         .       g.105315
 taagaagaggaaagctcaaaagaggataagagactgaaaaggcacctcagaatggctgct       c.*1740

          .         .         .         .         .         .       g.105375
 gtgggcagagtctgtgacatgactttccccgccctgcccctctgttcagagcagctggaa       c.*1800

          .         .         .         .         .         .       g.105435
 agatgggatcagtaagattaaaaaacttttgttcggccaggcgtggtggctcacacctgt       c.*1860

          .         .         .         .         .         .       g.105495
 aatcccagcactttgggaggctgaggcggacggatcatgaggtcaggagttcaagaccag       c.*1920

          .         .         .         .         .         .       g.105555
 cctggccaatatggtgaaaccccgtctctactaaaaatacaaaaattagccgggtgttgt       c.*1980

          .         .         .         .         .         .       g.105615
 ggctcaccctctattcccagctactcgggaggcagagacaggagaatcgcctgaacccag       c.*2040

          .         .         .         .         .         .       g.105675
 gaggcagaggttgcagtgagctgagatcgtgccactgcactccagcctgggtgacagagc       c.*2100

          .         .         .         .         .         .       g.105735
 gagactccatctcagaaaacaaacaaacaaaaagaaacttttgttcaagctgcatcttca       c.*2160

          .         .         .         .         .         .       g.105795
 cattgaatgaaagcattcagacgggtgactgctgctgtccacaactgtgggcggaagtgt       c.*2220

          .         .         .         .         .         .       g.105855
 gccttttcccagtttctcgtccaggaggttgcatagcaaatactcaagtcactgggatat       c.*2280

          .         .         .         .         .         .       g.105915
 atgctttccaaatgctggcccccatagcacctttccccatgtctttctaccaagcctctt       c.*2340

          .         .         .         .         .         .       g.105975
 atgtttaatctgtgcagggaagacaagagtagaccatattctctgtgtgctgtgcatgtc       c.*2400

          .         .         .         .         .         .       g.106035
 ctggtgtcactcattgcctcttatctgtcgccattctaatataagtcagcttaatagttg       c.*2460

          .         .         .         .         .         .       g.106095
 actctgaataatgcaaaacccagcttgcttccagaatggcctaggaccctcctcctcctg       c.*2520

          .         .         .         .         .         .       g.106155
 ccagtttttttttttttttttggttcatgtggcataatcatctttcaaaattaaccaaat       c.*2580

          .         .         .         .         .         .       g.106215
 gccccagaaaatgatgttaccactaaaatattttctccaagaaggcatactgtaacagaa       c.*2640

          .         .         .         .         .         .       g.106275
 aagataggtaagatatttttttcccaagaagtaagaattgattgtgctgaatgttcaaac       c.*2700

          .         .         .         .         .         .       g.106335
 tctggaaactgttcacagtatgttgttcttagctgttatttatataaagtgaattatttt       c.*2760

          .         .         .         .         .         .       g.106395
 ctctctcaatcatgccatagtggagacttttgtttgtgagtaagtgacagagtaatatga       c.*2820

          .         .         .         .         .         .       g.106455
 aataatgtgatatgtcagagtgacatgcagcatcctgagcctgtttttatgttctgtgta       c.*2880

          .         .         .         .         .         .       g.106515
 cagtggcatttgattgagatcaaagcctgtcacagcctgctgctgggggtgtggggatat       c.*2940

          .         .         .         .         .         .       g.106575
 gccagagtcctgtgtttggttttagaagtttactgaatgtttcccacatggagaataatg       c.*3000

          .         .         .         .         .         .       g.106635
 gatggcatgttagtttctttaagagtggtaaagttgtacatctgtcattgttgcatttcg       c.*3060

          .         .         .         .         .         .       g.106695
 aattgaacacatagatgcttgcctgtctgcttgggtgaatgcctcttgggagagcgaaga       c.*3120

          .         .         .         .         .         .       g.106755
 ttacgtgcatgatgtatgttaagaaacagtttccggtcaggcacagtggcttacacctgt       c.*3180

          .         .         .         .         .         .       g.106815
 aatcccagcactttgggaagccgaggcgggcggattatgaggtcaagagatagagaccat       c.*3240

          .         .         .         .         .         .       g.106875
 cctggccaacacggtgaaaccccgtctctactaaaaatacaaaaattagctgggcatggt       c.*3300

          .         .         .         .         .         .       g.106935
 ggcacacacctgtagtcccagctactcgggaggctgaggcaggagaatcacttgaacccg       c.*3360

          .         .         .         .         .         .       g.106995
 ggaggtggaggttgcagtgagccgagatcatgccactgcactccagcctggcaatagagc       c.*3420

          .         .         .         .         .         .       g.107055
 gagactccgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaattaaaacagtttccataaa       c.*3480

          .         .         .         .         .         .       g.107115
 tggagcttaatttgctctgctgtccttaagccctcgtgggtttttttttaagagagtctc       c.*3540

          .         .         .         .         .         .       g.107175
 attctgtcacccaggctggagtgcagtggtgcgatcttggctcacttcaacctctgcctc       c.*3600

          .         .         .         .         .         .       g.107235
 ccaagttcaaacaattctcctgcctcagcctcctgagtagctgggattacaggcgcctgc       c.*3660

          .         .         .         .         .         .       g.107295
 caccatgcctggttaatttttgtatttttagtagagatggggttttaccatgttggttgg       c.*3720

          .         .         .         .         .         .       g.107355
 ccaggctgatctcaaactcctgacctcaggtggtgatctgcccacctcggcctcccaaag       c.*3780

          .         .         .         .         .         .       g.107415
 tgctgggattacaggcgtgagccactatgtccggtcaagccctcgtgttctgaaccttgt       c.*3840

          .         .         .         .         .         .       g.107475
 caaggctctgcctgaatgagttttcatctgattgtggggaccaagtccctgagtagaggg       c.*3900

          .         .         .         .         .         .       g.107535
 ccaagagctagggacagggggaagagactggcccaggtggtagggaggaaagaactccca       c.*3960

          .         .         .         .         .         .       g.107595
 gagtttcctttagccaggaaacctgctctactgaccccgtgacttggacagtcagacatc       c.*4020

          .         .         .         .         .         .       g.107655
 accctgagagtgacaagtgtaaaatgactcccttcctcccccgccctccggaagtatatt       c.*4080

          .         .         .         .         .         .       g.107715
 tagatacttgaaagcagtccttttctaaaatggccttacctatgtggcctgaacgattaa       c.*4140

          .         .         .         .         .         .       g.107775
 aagaaagaactcagagttacaagggaaaaagaaaaagagttacaagggaattgtagtctt       c.*4200

          .         .         .         .         .         .       g.107835
 tttctgaatagaatattagtactgtggtattgcatttcatgggaatggaaatgtattggt       c.*4260

          .         .         .         .         .         .       g.107895
 aaagctacctgatggaagctttctcttggtaacaaaaatggagggtgtattatgtgcagt       c.*4320

          .         .         .         .         .         .       g.107955
 tatttaaatatatgtattccattgttgcgtggtttttttcccccctcaagacagagattt       c.*4380

          .         .         .         .         .         .       g.108015
 gctcttgttgcccagggtggagtacaatggtgtgaccttggctcactgcaacctctgcct       c.*4440

          .         .         .         .         .         .       g.108075
 cctgggttcaggtgattctcctgcctcagccttccgagtagctgggattacaggtgtgcg       c.*4500

          .         .         .         .         .         .       g.108135
 ccaccacacccggctaatttttgctttttttttttttgagacagaatctcgctctgttgc       c.*4560

          .         .         .         .         .         .       g.108195
 tcaggctggagtggagtgcagtggcacaatctcagctcactgcagcctctgcctcccggg       c.*4620

          .         .         .         .         .         .       g.108255
 ttcaagagattctcctgactcaacctcctgagtagctgggattacaggtgcctgccacta       c.*4680

          .         .         .         .         .         .       g.108315
 tgcctagctaatttttgtatttttagtagagacggggttttgccatgttggccagggtgg       c.*4740

          .         .         .         .         .         .       g.108375
 tctcgaactcctgacctcaagtgatccacccgcatcggccccccaaagtgctgggattat       c.*4800

          .         .         .         .         .         .       g.108435
 aggcgtgaaccaccgcgcctgtcccattgttgtgtaattttaataattagttttttaagt       c.*4860

          .         .         .         .         .         .       g.108495
 acttgattttatgggcacatttttgtgggatgattggagttaatcaaataaagcttgtca       c.*4920

          .         .         .         .         .         .       g.108555
 tgtgtgtagtttggtaagataacttctttaaattcatgttttctctgccttgaggtagtg       c.*4980

          .         .         .         .         .         .       g.108615
 agggaaagatcttaatcagtattttggtaattaactgattgaattcaagcaaatgagaca       c.*5040

          .         .         .         .         .         .       g.108675
 tcatgaacttcagtggttattgatatttcagggtatatacctgaaatgcctagaggatac       c.*5100

          .         .         .         .         .         .       g.108735
 agatttctcatttcattctttggtctttcatttctctatatacagaaatgaaatgacact       c.*5160

          .         .         .         .         .         .       g.108795
 tctgggaggcagtagaagcaggaagtcaatgaattgagtagagggtcccattccctcagg       c.*5220

          .         .         .         .         .         .       g.108855
 ctgtcattgatcagtgacaatttataaaaacaaactgcaaagtctgtggcaagtggctgc       c.*5280

          .         .         .         .         .         .       g.108915
 ctgcttcctagaaggagcccatgaaggttaaactctgtggtcggtatttgcaagcgccgg       c.*5340

          .         .         .         .         .         .       g.108975
 gcgtggtggctcacgcctgtaatcctagcaccttgggaggccaaggcaggcggatcaccc       c.*5400

          .         .         .         .         .         .       g.109035
 gaggtcaggagtttgaggatttgcaagcaaaaggtcctctcctgagtctttcccagatac       c.*5460

          .         .         .         .         .         .       g.109095
 ccagcagtgcagaggctagctgtggaaggttgcagtgggacaggaatgtattgtatgcct       c.*5520

          .         .         .         .         .         .       g.109155
 tgccttacttgtcaccattgagatttccagagaaatgggcataacgtctcttaacaacaa       c.*5580

          .         .         .         .         .         .       g.109215
 cagcagaaagcaaaatacattaacttaaggttgacaacaaaagattatcaagtaccatgt       c.*5640

          .         .         .         .         .         .       g.109275
 tttccaaccaaccagttattcgtggtaataataaaataaaggtgggaaaatgttataatt       c.*5700

          .         .         .         .         .         .       g.109335
 tttaaggaaactgtgtactttaaaaatcttctttatgaatatccaatgttactgtaatcc       c.*5760

          .         .         .         .         .         .       g.109395
 tgctccattaaatgcagcattgttgtcaggtgctgcctcttgcttgggaacagcattggg       c.*5820

          .         .         .         .         .         .       g.109455
 cttttaaatgtctgcagaatctctgcgttcgaagggaattgagaatgaacttcctggtac       c.*5880

          .         .         .         .         .                 g.109510
 tgtaatgaaaataaggtctgctcaacacagtaaacgtttcctctcttctttaaaa            c.*5935

 (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 UDP-glucose glycoprotein glucosyltransferase 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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