small nuclear ribonucleoprotein polypeptide N (SNRPN) - coding DNA reference sequence

(used for variant description)

(last modified December 29, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_022807.2 in the SNRPN gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012958.1, covering SNRPN transcript NM_022807.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5050
           caccaagggctggccgcagccactgtagctgagctcagagccttctgtgt       c.-841

 .         .         .         .         .         .                g.5110
 ggtttgcgggggcaaggtcagctgccccctgccctctctctggggctatttgaggaatgc       c.-781

 .         .         .         .         .         .                g.5170
 ggcctttttgcataagaaaggcttttctctacagtaactgtggtcgctgatcaatgacac       c.-721

 .         .         .         .    | 02    .         .             g.11177
 cttcctggtaacatttcatattgcttttttggag | atgtaagtgggatctgtggatctgaa    c.-661

 .         .         .         .         .         .                g.11237
 aattcacagtggccagctcaccaccacctgatgaaagatacaccacagggtgagagcatc       c.-601

 .         .         .  | 03      .         .         .             g.67907
 ctaacagcaaactgcaaatgag | atactttgacgaaggtaattgggactcccatcaagtct    c.-541

 .         .         .         .      | 04  .         .             g.101388
 ccacacagctagcagccacgtggggcacttctccag | catatgtaagtggaactcagaagg    c.-481

 .         .         .         .         .         .                g.101448
 caacattccctgaacatactcttccaccagaatctcctctacagatttttgctgcccctt       c.-421

 .         .         .          | 05        .         .             g.143497
 ttaccagtggctgaatctactttctcttat | ggatcgcttacacctgagacgaactacaga    c.-361

 .         .         .         .         .         .                g.143557
 acagcacgtaccagaggtggaagtccaagtcaaacgcagaaggactgcctcactgagcaa       c.-301

 .      | 06  .         .         .         .         .             g.149339
 ccaaga | gtgtcagttgtacccgaggcgttctcagcagcagcaagtacctgtggtggattt    c.-241

 .         .         .         .         .         .                g.149399
 ccaggctgaactgaggcaggcattcttagctgagacaccaagaggtggttaaagccatat       c.-181

 .         .         .         .       | 07 .         .             g.155687
 tggagtagcgaggaatctgattccaagcaaaaaccag | gctccatctactctttgaagctt    c.-121

 .         .         .         .         .         .                g.155747
 ctgcccagcttgcattgtttctaggagaacctgcgtcatacctttatctatagccttccc       c.-61

 .         .         .         .         .         .                g.155807
 ctaggtcttcagaagcatcaagttttaactgtggacattggatttggtggaacagcaatc       c.-1

     | 08    .         .         .         .         .         .    g.156768
 ATG | ACTGTTGGCAAGAGTAGCAAGATGCTGCAGCACATTGACTATAGAATGAGATGTATC    c.60
 M   | T  V  G  K  S  S  K  M  L  Q  H  I  D  Y  R  M  R  C  I      p.20

          .         .         .         .         .         .       g.156828
 CTGCAAGATGGCCGAATCTTCATTGGCACCTTTAAGGCTTTTGACAAGCATATGAATTTG       c.120
 L  Q  D  G  R  I  F  I  G  T  F  K  A  F  D  K  H  M  N  L         p.40

          .         .         .      | 09  .         .         .    g.157683
 ATCCTCTGTGATTGTGATGAGTTCAGAAAGATCAA | GCCAAAGAATGCGAAGCAACCAGAG    c.180
 I  L  C  D  C  D  E  F  R  K  I  K  |  P  K  N  A  K  Q  P  E      p.60

          .         .         .         .         .         .       g.157743
 CGTGAAGAAAAGCGGGTTTTGGGTCTGGTGTTGCTGCGTGGGGAGAACTTGGTATCCATG       c.240
 R  E  E  K  R  V  L  G  L  V  L  L  R  G  E  N  L  V  S  M         p.80

          .         .        | 10.         .         .         .    g.158263
 ACTGTGGAGGGGCCACCCCCCAAAGAT | ACTGGCATTGCTCGGGTACCACTTGCTGGAGCT    c.300
 T  V  E  G  P  P  P  K  D   | T  G  I  A  R  V  P  L  A  G  A      p.100

          .         .         .         .         .         .       g.158323
 GCTGGAGGCCCTGGGGTTGGTAGGGCAGCTGGTAGAGGAGTACCAGCTGGTGTGCCAATT       c.360
 A  G  G  P  G  V  G  R  A  A  G  R  G  V  P  A  G  V  P  I         p.120

          .         .         .         .         .         .       g.158383
 CCCCAGGCCCCTGCTGGATTGGCAGGCCCTGTCCGAGGAGTTGGGGGACCATCCCAGCAG       c.420
 P  Q  A  P  A  G  L  A  G  P  V  R  G  V  G  G  P  S  Q  Q         p.140

  | 11       .         .         .         .         .         .    g.159191
  | GTAATGACTCCACAGGGAAGAGGCACTGTAGCAGCTGCTGCTGTTGCTGCGACTGCCAGT    c.480
  | V  M  T  P  Q  G  R  G  T  V  A  A  A  A  V  A  A  T  A  S      p.160

          .         .         .         .         .         .       g.159251
 ATTGCTGGAGCCCCAACACAGTACCCACCAGGACGGGGCACTCCGCCCCCACCCGTCGGC       c.540
 I  A  G  A  P  T  Q  Y  P  P  G  R  G  T  P  P  P  P  V  G         p.180

          .          | 12        .         .         .         .    g.159587
 AGAGCAACCCCACCTCCAG | GCATTATGGCTCCTCCACCTGGTATGAGACCACCCATGGGC    c.600
 R  A  T  P  P  P  G |   I  M  A  P  P  P  G  M  R  P  P  M  G      p.200

          .         .         .         .         .         .       g.159647
 CCACCAATTGGGCTTCCCCCTGCTCGAGGGACGCCAATAGGCATGCCGCCTCCGGGAATG       c.660
 P  P  I  G  L  P  P  A  R  G  T  P  I  G  M  P  P  P  G  M         p.220

          .         .      | 13  .         .         .         .    g.159795
 AGACCCCCTCCACCAGGCATTAGAG | GTCCACCTCCCCCAGGAATGCGTCCACCAAGACCT    c.720
 R  P  P  P  P  G  I  R  G |   P  P  P  P  G  M  R  P  P  R  P      p.240

                                                                    g.159798
 TAG                                                                c.723
 X                                                                  p.240

          .         .         .         .         .         .       g.159858
 catactgttgatccatctcagtcactttttcccctgcaatgcgtcttgtgaaattgtgta       c.*60

          .         .         .         .         .         .       g.159918
 gagtgtttgtgagctttttgttccctcattctgcattaataatagctaataataaatgca       c.*120

          .                                                         g.159936
 tagagcaattaaactgtg                                                 c.*138

 (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 Small nuclear ribonucleoprotein polypeptide N 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.