solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 (SLC9A3R1) - coding DNA reference sequence

(used for variant description)

(last modified December 2, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_004252.4 in the SLC9A3R1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering SLC9A3R1 transcript NM_004252.4.

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

 (upstream sequence)
           .         .         .         .         .                g.5055
      ggactctgggacgctcagacgccgcgcggggcggggattggtctgtggtcctctc       c.-181

 .         .         .         .         .         .                g.5115
 tcggctcctcgcggctcgcggcggccgacggttcctgggacacctgcttgcttggcccgt       c.-121

 .         .         .         .         .         .                g.5175
 ccggcggctcagggcttctctgctgcgctcccggttcgctggacgggaagaagggctggg       c.-61

 .         .         .         .         .         .                g.5235
 ccgtcccgtcccgtccccatcggaaccccaagtcgcgccgctgacccgtcgcagggcgag       c.-1

          .         .         .         .         .         .       g.5295
 ATGAGCGCGGACGCAGCGGCCGGGGCGCCCCTGCCCCGGCTCTGCTGCCTGGAGAAGGGT       c.60
 M  S  A  D  A  A  A  G  A  P  L  P  R  L  C  C  L  E  K  G         p.20

          .         .         .         .         .         .       g.5355
 CCGAACGGCTACGGCTTCCACCTGCACGGGGAGAAGGGCAAGTTGGGCCAGTACATCCGG       c.120
 P  N  G  Y  G  F  H  L  H  G  E  K  G  K  L  G  Q  Y  I  R         p.40

          .         .         .         .         .         .       g.5415
 CTGGTGGAGCCCGGCTCGCCGGCCGAGAAGGCGGGGCTGCTGGCGGGGGACCGGCTGGTG       c.180
 L  V  E  P  G  S  P  A  E  K  A  G  L  L  A  G  D  R  L  V         p.60

          .         .         .         .         .         .       g.5475
 GAGGTGAACGGCGAAAACGTGGAGAAGGAGACCCACCAGCAGGTGGTGAGCCGCATCCGC       c.240
 E  V  N  G  E  N  V  E  K  E  T  H  Q  Q  V  V  S  R  I  R         p.80

          .         .         .         .         .         .       g.5535
 GCCGCACTCAACGCCGTGCGCCTGCTGGTGGTCGACCCCGAGACGGACGAGCAGCTGCAG       c.300
 A  A  L  N  A  V  R  L  L  V  V  D  P  E  T  D  E  Q  L  Q         p.100

          .         .         .         .         .         .       g.5595
 AAGCTCGGCGTCCAGGTCCGAGAGGAGCTGCTGCGCGCCCAGGAAGCGCCGGGGCAGGCC       c.360
 K  L  G  V  Q  V  R  E  E  L  L  R  A  Q  E  A  P  G  Q  A         p.120

          .         .         .         .         .         .       g.5655
 GAGCCGCCGGCCGCCGCCGAGGTGCAGGGGGCTGGCAACGAAAATGAGCCTCGCGAGGCC       c.420
 E  P  P  A  A  A  E  V  Q  G  A  G  N  E  N  E  P  R  E  A         p.140

          .         .  | 02      .         .         .         .    g.18439
 GACAAGAGCCACCCGGAGCAG | CGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGGC    c.480
 D  K  S  H  P  E  Q   | R  E  L  R  P  R  L  C  T  M  K  K  G      p.160

          .         .         .         .         .         .       g.18499
 CCCAGTGGCTATGGCTTCAACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGG       c.540
 P  S  G  Y  G  F  N  L  H  S  D  K  S  K  P  G  Q  F  I  R         p.180

          .         .         .         .         .         .       g.18559
 TCAGTGGACCCAGACTCCCCGGCTGAGGCTTCAGGGCTCCGGGCCCAGGATCGCATTGTG       c.600
 S  V  D  P  D  S  P  A  E  A  S  G  L  R  A  Q  D  R  I  V         p.200

     | 03    .         .         .         .         .         .    g.19812
 GAG | GTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGGGGACGTGGTGTCCGCCATCAGG    c.660
 E   | V  N  G  V  C  M  E  G  K  Q  H  G  D  V  V  S  A  I  R      p.220

          .         .         .         .         .         .       g.19872
 GCTGGCGGGGACGAGACCAAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAG       c.720
 A  G  G  D  E  T  K  L  L  V  V  D  R  E  T  D  E  F  F  K         p.240

          .         .         .        | 04.         .         .    g.23347
 AAATGCAGAGTGATCCCATCTCAGGAGCACCTGAATG | GTCCCCTGCCTGTGCCCTTCACC    c.780
 K  C  R  V  I  P  S  Q  E  H  L  N  G |   P  L  P  V  P  F  T      p.260

          .         | 05         .         .         .         .    g.24577
 AATGGGGAGATACAGAAG | GAGAACAGTCGTGAAGCCCTGGCAGAGGCAGCCTTGGAGAGC    c.840
 N  G  E  I  Q  K   | E  N  S  R  E  A  L  A  E  A  A  L  E  S      p.280

          .         .         .         .         | 06         .    g.24868
 CCCAGGCCAGCCCTGGTGAGATCCGCCTCCAGTGACACCAGCGAGGAG | CTGAATTCCCAA    c.900
 P  R  P  A  L  V  R  S  A  S  S  D  T  S  E  E   | L  N  S  Q      p.300

          .         .         .         .         .         .       g.24928
 GACAGCCCCCCAAAACAGGACTCCACAGCGCCCTCGTCTACCTCCTCCTCCGACCCCATC       c.960
 D  S  P  P  K  Q  D  S  T  A  P  S  S  T  S  S  S  D  P  I         p.320

          .         .         .         .         .         .       g.24988
 CTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCCCACCAGAAACGCAGCAGC       c.1020
 L  D  F  N  I  S  L  A  M  A  K  E  R  A  H  Q  K  R  S  S         p.340

          .         .         .         .         .                 g.25045
 AAACGGGCCCCGCAGATGGACTGGAGCAAGAAAAACGAACTCTTCAGCAACCTCTGA          c.1077
 K  R  A  P  Q  M  D  W  S  K  K  N  E  L  F  S  N  L  X            p.358

          .         .         .         .         .         .       g.25105
 gcgccctgctgccacccagtgactggcagggccgagccagcattccaccccacctttttc       c.*60

          .         .         .         .         .         .       g.25165
 cttctccccaattactcccctgaatcaatgtacaaatcagcacccacatcccctttcttg       c.*120

          .         .         .         .         .         .       g.25225
 acaaatgatttttctagagaactatgttcttccctgactttagggaaggtgaatgtgttc       c.*180

          .         .         .         .         .         .       g.25285
 ccgtcctcccgcagtcagaaaggagactctgcctccctcctcctcactgagtgcctcatc       c.*240

          .         .         .         .         .         .       g.25345
 ctaccgggtgtccctttgccaccctgcctgggacatcgctggaacctgcaccatgccagg       c.*300

          .         .         .         .         .         .       g.25405
 atcatgggaccaggcgagagggcaccctcccttcctcccccatgtgataaatgggtccag       c.*360

          .         .         .         .         .         .       g.25465
 ggctgatcaaagaactctgactgcagaactgccgctctcagtggacagggcatctgttac       c.*420

          .         .         .         .         .         .       g.25525
 cctgagacctgtggcagacacgtcttgttttcatttgatttttgttaagagtgcagtatt       c.*480

          .         .         .         .         .         .       g.25585
 gcagagtctagaggaatttttgtttccttgattaacatgattttcctggttgttacatcc       c.*540

          .         .         .         .         .         .       g.25645
 agggcatggcagtggcctcagccttaaacttttgttcctactcccaccctcagcgaactg       c.*600

          .         .         .         .         .         .       g.25705
 ggcagcacggggagggtttggctacccctgcccatccctgagccaggtaccaccattgta       c.*660

          .         .         .         .                           g.25749
 aggaaacactttcagaaattcagctggttcctccaaacccttca                       c.*704

 (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 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 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 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.