solute carrier family 35 (GDP-fucose transporter), member C1 (SLC35C1) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the SLC35C1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering SLC35C1 transcript NM_018389.4.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
           .         .         .         .         .                g.2070
         aaggccacgtgggggcgtgtcaggaagtgagtccagggcccgcctcccgggg       c.-661

 .         .         .         .         .         .                g.2130
 agtcggcctcggatgtccggaggctcctgggctgagccggcgacagagcccgggaaggca       c.-601

 .         .         .         .         .         .                g.2190
 gcgagacgtgggcgccggcccagccccctcccgcgtccttcagccccaagccccgagccc       c.-541

 .         .         .         .         .         .                g.2250
 ctctgacccttccgcagccctccctccagccgcgcccggcctccggcagctccctgtacg       c.-481

 .         .         .         .         .         .                g.2310
 cctccctccccctgcccgcccctccctcccacagccgcccatgacgccctctcggcacct       c.-421

 .         .         .         .         .         .                g.2370
 cttcccactctgccacgcgtccttttcctgcaccttcgccccgcgtacctactcctgccc       c.-361

 .         .         .         .         .         .                g.2430
 cgccctgccattcctctcccctcccttctctctgcgacccctccctgttaggccccagcc       c.-301

 .         .         .         .         .         .                g.2490
 tcttctcccctcacaggtcttctctgtcctggcctcaccgccttatcctattcctctccc       c.-241

 .         .         .         .         .         .                g.2550
 ttgccctgtgtcttgtctcagagccccctcggggtgggagtaggttgtggagcagcacaa       c.-181

 .         .         .         .         .         .                g.2610
 ctgggctcaccccaaagcagaacttctcaatccatgaggacaatggggaggcctttaggc       c.-121

 .         .         .         .         .         .                g.2670
 cagcccacatgtgacaatggagggctgcggcttccttgcggagagcacaagtgagctcac       c.-61

 .         .         .         .         .         .                g.2730
 tgccctggactccagggaatcagagttctggccgcggggtgacccagctcctctgctacc       c.-1

          .         .         .         .         .         .       g.2790
 ATGAATAGGGCCCCTCTGAAGCGGTCCAGGATCCTGCACATGGCGCTGACCGGGGCCTCA       c.60
 M  N  R  A  P  L  K  R  S  R  I  L  H  M  A  L  T  G  A  S         p.20

          .         .         .         .         .         .       g.2850
 GACCCCTCTGCAGAGGCAGAGGCCAACGGGGAGAAGCCCTTTCTGCTGCGGGCATTGCAG       c.120
 D  P  S  A  E  A  E  A  N  G  E  K  P  F  L  L  R  A  L  Q         p.40

          .         .         .         .         .         .       g.2910
 ATCGCGCTGGTGGTCTCCCTCTACTGGGTCACCTCCATCTCCATGGTGTTCCTTAATAAG       c.180
 I  A  L  V  V  S  L  Y  W  V  T  S  I  S  M  V  F  L  N  K         p.60

          .         .         .         .         .         .       g.2970
 TACCTGCTGGACAGCCCCTCCCTGCGGCTGGACACCCCCATCTTCGTCACCTTCTACCAG       c.240
 Y  L  L  D  S  P  S  L  R  L  D  T  P  I  F  V  T  F  Y  Q         p.80

          .         .         .         .         .         .       g.3030
 TGCCTGGTGACCACGCTGCTGTGCAAAGGCCTCAGCGCTCTGGCCGCCTGCTGCCCTGGT       c.300
 C  L  V  T  T  L  L  C  K  G  L  S  A  L  A  A  C  C  P  G         p.100

          .         .         .         .         .         .       g.3090
 GCCGTGGACTTCCCCAGCTTGCGCCTGGACCTCAGGGTGGCCCGCAGCGTCCTGCCCCTG       c.360
 A  V  D  F  P  S  L  R  L  D  L  R  V  A  R  S  V  L  P  L         p.120

          .         .         .         .         .         .       g.3150
 TCGGTGGTCTTCATCGGCATGATCACCTTCAATAACCTCTGCCTCAAGTACGTCGGTGTG       c.420
 S  V  V  F  I  G  M  I  T  F  N  N  L  C  L  K  Y  V  G  V         p.140

          .         .         .         .         .         .       g.3210
 GCCTTCTACAATGTGGGCCGCTCACTCACCACCGTCTTCAACGTGCTGCTCTCCTACCTG       c.480
 A  F  Y  N  V  G  R  S  L  T  T  V  F  N  V  L  L  S  Y  L         p.160

          .         .         .         .         .      | 02  .    g.7709
 CTGCTCAAGCAGACCACCTCCTTCTATGCCCTGCTCACCTGCGGTATCATCATCG | GGGGC    c.540
 L  L  K  Q  T  T  S  F  Y  A  L  L  T  C  G  I  I  I  G |   G      p.180

          .         .         .         .         .         .       g.7769
 TTCTGGCTTGGTGTGGACCAGGAGGGGGCAGAAGGCACCCTGTCGTGGCTGGGCACCGTC       c.600
 F  W  L  G  V  D  Q  E  G  A  E  G  T  L  S  W  L  G  T  V         p.200

          .         .         .         .         .         .       g.7829
 TTCGGCGTGCTGGCTAGCCTCTGTGTCTCGCTCAACGCCATCTACACCACGAAGGTGCTC       c.660
 F  G  V  L  A  S  L  C  V  S  L  N  A  I  Y  T  T  K  V  L         p.220

          .         .         .         .         .         .       g.7889
 CCGGCGGTGGACGGCAGCATCTGGCGCCTGACTTTCTACAACAACGTCAACGCCTGCATC       c.720
 P  A  V  D  G  S  I  W  R  L  T  F  Y  N  N  V  N  A  C  I         p.240

          .         .         .         .         .         .       g.7949
 CTCTTCCTGCCCCTGCTCCTGCTGCTCGGGGAGCTTCAGGCCCTGCGTGACTTTGCCCAG       c.780
 L  F  L  P  L  L  L  L  L  G  E  L  Q  A  L  R  D  F  A  Q         p.260

          .         .         .         .         .         .       g.8009
 CTGGGCAGTGCCCACTTCTGGGGGATGATGACGCTGGGCGGCCTGTTTGGCTTTGCCATC       c.840
 L  G  S  A  H  F  W  G  M  M  T  L  G  G  L  F  G  F  A  I         p.280

          .         .         .         .         .         .       g.8069
 GGCTACGTGACAGGACTGCAGATCAAGTTCACCAGTCCGCTGACCCACAATGTGTCGGGC       c.900
 G  Y  V  T  G  L  Q  I  K  F  T  S  P  L  T  H  N  V  S  G         p.300

          .         .         .         .         .         .       g.8129
 ACGGCCAAGGCCTGTGCCCAGACAGTGCTGGCCGTGCTCTACTACGAGGAGACCAAGAGC       c.960
 T  A  K  A  C  A  Q  T  V  L  A  V  L  Y  Y  E  E  T  K  S         p.320

          .         .         .         .         .         .       g.8189
 TTCCTCTGGTGGACGAGCAACATGATGGTGCTGGGCGGCTCCTCCGCCTACACCTGGGTC       c.1020
 F  L  W  W  T  S  N  M  M  V  L  G  G  S  S  A  Y  T  W  V         p.340

          .         .         .         .         .         .       g.8249
 AGGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGC       c.1080
 R  G  W  E  M  K  K  T  P  E  E  P  S  P  K  D  S  E  K  S         p.360

          .                                                         g.8264
 GCCATGGGGGTGTGA                                                    c.1095
 A  M  G  V  X                                                      p.364

          .         .         .         .         .         .       g.8324
 gcaccacaggcaccctggatggcccggccccggggcccgtacacaggcggggccagcaca       c.*60

          .         .         .         .         .         .       g.8384
 gtagtgaaggcggtctcctggaccccagaagcgtgctgtggtgtggactgggtgctactt       c.*120

          .         .         .         .         .         .       g.8444
 atagacccaatcagaatacggtggttgagaaggaaccagtgtttacaagtaatatcagaa       c.*180

          .         .         .         .         .         .       g.8504
 agttgaaggaaccagtgtttacaagtaataccagaaagttgccaaacccttctctatcct       c.*240

          .         .         .         .         .         .       g.8564
 ctcgtatttctgagtttttgtccttcccgagggagcaccctagtgagagttgaacccctt       c.*300

          .         .         .         .         .         .       g.8624
 ccttctgcctccagggcctgtctgcctccacatcactctgaggacagggacaggcaacaa       c.*360

          .         .         .         .         .         .       g.8684
 ccttgaagggacagcaatggcaaagccacaaaggcttcactgtactcaggggagatggcc       c.*420

          .         .         .         .         .         .       g.8744
 ctaccacagccacctggagagggttgggaagccttccgtctgcggtgggcaggcagcctc       c.*480

          .         .         .         .         .         .       g.8804
 accctgggcccacagaccggccttcctttggaggaaagtgtggcctggactgagggagga       c.*540

          .         .         .         .         .         .       g.8864
 aatgagcgagttccctctgacaccagcagatccccaggggctgctgggcagtggcctggg       c.*600

          .         .         .         .         .         .       g.8924
 aatggggtggattgtgagaaagtgctcaccatctatacaccctgtatgtccagcttttga       c.*660

          .         .         .         .         .         .       g.8984
 acacaagggaaccatgcttctcttagaggttaagcagggtcattaacatcctcccccagt       c.*720

          .         .         .         .         .         .       g.9044
 ccctaacatcacattgtcctgcgtggctcctctggccctgagtggcacctgtccctctgg       c.*780

          .         .         .         .         .         .       g.9104
 tctcccagcacctggcccaggtaacagccttctgaaagcagagccaaggagctgcttctc       c.*840

          .         .         .         .         .         .       g.9164
 tcttctcccagttctacctccccagaagccttcctccccaggtggggctgatggagcaag       c.*900

          .         .         .         .         .         .       g.9224
 ggtccagactaggagccttccaccccagctgtgtctggcgcccctagatctctgcaaggg       c.*960

          .         .         .         .         .         .       g.9284
 aggtgttacagctggttctgagccgcttgccttgtgatggtaagacaccaacctttacat       c.*1020

          .         .         .         .         .         .       g.9344
 tcttccctgaggttgtggctgacagagcctgcttggccccactgttagtccagcgagctc       c.*1080

          .         .         .         .         .         .       g.9404
 ctatatcaaaatgccgtaggccgggtggcttacaaacaacagaaacgtattgctcacagt       c.*1140

          .         .         .         .         .         .       g.9464
 cctggggggctgggacgcccaagatcaagaggccagcagattcggactccgctgagggct       c.*1200

          .         .         .         .         .         .       g.9524
 gtttcccgatccatagatggtgccttctcgctgtatcctcaatggtagaagcacaaacaa       c.*1260

          .         .         .         .         .         .       g.9584
 gcaagctccttcctgcctcttttataaggactccaaccctgttcatgagggttccgcccc       c.*1320

          .         .         .         .         .         .       g.9644
 catgacccaatcagctccaaaggccccacctcctaatactgtcaccttgggggtgagaat       c.*1380

          .         .         .         .         .         .       g.9704
 tccaatgtgaatttgcagggggagtgggggacacacacaaatttcggggccataccaccc       c.*1440

          .         .         .         .         .         .       g.9764
 ttcaccacaccctcctgcgctcagggtggcttgcagtccctggcccttctggtgggcatt       c.*1500

          .         .         .         .         .         .       g.9824
 tggtatgtcctttctcttggggtgatttctgatgtttttactctatatagtgaaaagcta       c.*1560

          .         .         .         .         .         .       g.9884
 gggagagcgggtcttctcccccctccctctccagtcccctcacaatcccagatgggttct       c.*1620

          .         .         .         .         .         .       g.9944
 aatgcagctgctggggcctgatgccctgagttgtttgtgattcaataaagaatccataag       c.*1680

                                                                    g.9945
 a                                                                  c.*1681

 (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 10^th nucleotide is indicated by a "." above the sequence. The Solute carrier family 35 (GDP-fucose transporter), member C1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.