solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2) - coding DNA reference sequence

(used for variant description)

(last modified December 2, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_004171.3 in the SLC1A2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008727.1, covering SLC1A2 transcript NM_004171.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5052
         gggtgatgtcagctctcgacgaaaatagagagggatcgcctgcaaatcccca       c.-541

 .         .         .         .         .         .                g.5112
 gctccggcggggctaaaccttgcaatccctccctggccggcgccgagccagagcgcagcg       c.-481

 .         .         .         .         .         .                g.5172
 gcctccaccgcctccccaggcgcgcacacacccgcacacgcgcacgcacgctcaccgtcc       c.-421

 .         .         .         .         .         .                g.5232
 tctgccaccactctctgctcccgccactcgccgcgcccgcgagccccgcagcaaagcaca       c.-361

 .         .         .         .         .         .                g.5292
 ggtggcagcggctgcaggggcgcatcgccggcgtgcgccctcctgcagccctgggcgcat       c.-301

 .         .         .         .         .         .                g.5352
 cgctctctcggggaagccaccctcggagcccccggagctccccgccaagcgccatccccg       c.-241

 .         .         .         .         .         .                g.5412
 cgggcggaggggagcgcgggtcgcgcgccgtggagagccgggacgcggattagcgcccgc       c.-181

 .         .         .         .         .         .                g.5472
 aggagcctcctgcgcccgttgaggcgctaaagggcttaccccggaggcgggtggaagggc       c.-121

 .         .         .         .         .         .                g.5532
 gggcagaggctcctcttaaataccgctcccggccgcacttcgcgctcaccccggcgtccg       c.-61

 .         .         .         .         .         .                g.5592
 ctttctccctcgcccacagctgccggatagtgctgaagaggagggggcgttccccagacc       c.-1

          .        | 02.         .         .         .         .    g.107085
 ATGGCATCTACGGAAGG | TGCCAACAATATGCCCAAGCAGGTGGAAGTGCGAATGCACGAC    c.60
 M  A  S  T  E  G  |  A  N  N  M  P  K  Q  V  E  V  R  M  H  D      p.20

          .         .         .         .         .         .       g.107145
 AGTCATCTTGGCTCAGAGGAACCCAAGCACCGGCACCTGGGCCTGCGCCTGTGTGACAAG       c.120
 S  H  L  G  S  E  E  P  K  H  R  H  L  G  L  R  L  C  D  K         p.40

          .         .         .        | 03.         .         .    g.109406
 CTGGGGAAGAATCTGCTGCTCACCCTGACGGTGTTTG | GTGTCATCCTGGGAGCAGTGTGT    c.180
 L  G  K  N  L  L  L  T  L  T  V  F  G |   V  I  L  G  A  V  C      p.60

          .         .         .         .         .         .       g.109466
 GGAGGGCTTCTTCGCTTGGCATCTCCCATCCACCCTGATGTGGTTATGTTAATAGCCTTC       c.240
 G  G  L  L  R  L  A  S  P  I  H  P  D  V  V  M  L  I  A  F         p.80

          .         .         .         .         .         .       g.109526
 CCAGGGGATATACTCATGAGGATGCTAAAAATGCTCATTCTCCCTCTAATCATCTCCAGC       c.300
 P  G  D  I  L  M  R  M  L  K  M  L  I  L  P  L  I  I  S  S         p.100

          . | 04       .         .         .         .         .    g.112160
 TTAATCACAG | GGTTGTCAGGCCTGGATGCTAAGGCTAGTGGCCGCTTGGGCACGAGAGCC    c.360
 L  I  T  G |   L  S  G  L  D  A  K  A  S  G  R  L  G  T  R  A      p.120

          .         .         .         .         .         .       g.112220
 ATGGTGTATTACATGTCCACGACCATCATTGCTGCAGTACTGGGGGTCATTCTGGTCTTG       c.420
 M  V  Y  Y  M  S  T  T  I  I  A  A  V  L  G  V  I  L  V  L         p.140

          .         .         .         .         .         .       g.112280
 GCTATCCATCCAGGCAATCCCAAGCTCAAGAAGCAGCTGGGGCCTGGGAAGAAGAATGAT       c.480
 A  I  H  P  G  N  P  K  L  K  K  Q  L  G  P  G  K  K  N  D         p.160

          .         .         .         .         .         .       g.112340
 GAAGTGTCCAGCCTGGATGCCTTCCTGGACCTTATTCGAAATCTCTTCCCTGAAAACCTT       c.540
 E  V  S  S  L  D  A  F  L  D  L  I  R  N  L  F  P  E  N  L         p.180

          .         .  | 05      .         .         .         .    g.118355
 GTCCAAGCCTGCTTTCAACAG | ATTCAAACAGTGACGAAGAAAGTCCTGGTTGCACCACCG    c.600
 V  Q  A  C  F  Q  Q   | I  Q  T  V  T  K  K  V  L  V  A  P  P      p.200

          .         .         .         .         .         .       g.118415
 CCGGACGAGGAGGCCAACGCAACCAGCGCTGTTGTCTCTCTGTTGAACGAGACTGTGACT       c.660
 P  D  E  E  A  N  A  T  S  A  V  V  S  L  L  N  E  T  V  T         p.220

          .         .         .         .         .         .       g.118475
 GAGGTGCCGGAGGAGACTAAGATGGTTATCAAGAAGGGCCTGGAGTTCAAGGATGGGATG       c.720
 E  V  P  E  E  T  K  M  V  I  K  K  G  L  E  F  K  D  G  M         p.240

          . | 06       .         .         .         .         .    g.122963
 AACGTCTTAG | GTCTGATAGGGTTTTTCATTGCTTTTGGCATCGCTATGGGGAAGATGGGA    c.780
 N  V  L  G |   L  I  G  F  F  I  A  F  G  I  A  M  G  K  M  G      p.260

          .         .         .         .         .         .       g.123023
 GATCAGGCCAAGCTGATGGTGGATTTCTTCAACATTTTGAATGAGATTGTAATGAAGTTA       c.840
 D  Q  A  K  L  M  V  D  F  F  N  I  L  N  E  I  V  M  K  L         p.280

          .        | 07.         .         .         .         .    g.132081
 GTGATCATGATCATGTG | GTACTCTCCCCTGGGTATCGCCTGCCTGATCTGTGGAAAGATC    c.900
 V  I  M  I  M  W  |  Y  S  P  L  G  I  A  C  L  I  C  G  K  I      p.300

          .         .         .         .         .         .       g.132141
 ATTGCAATCAAGGACTTAGAAGTGGTTGCTAGGCAACTGGGGATGTACATGGTAACAGTG       c.960
 I  A  I  K  D  L  E  V  V  A  R  Q  L  G  M  Y  M  V  T  V         p.320

          .         .         .         .         .         .       g.132201
 ATCATAGGCCTCATCATCCACGGGGGCATCTTTCTCCCCTTGATTTACTTTGTAGTGACC       c.1020
 I  I  G  L  I  I  H  G  G  I  F  L  P  L  I  Y  F  V  V  T         p.340

          .         .         .         .         .         .       g.132261
 AGGAAAAACCCCTTCTCCTTTTTTGCTGGCATTTTCCAAGCTTGGATCACTGCCCTGGGC       c.1080
 R  K  N  P  F  S  F  F  A  G  I  F  Q  A  W  I  T  A  L  G         p.360

          .  | 08      .         .         .         .         .    g.137656
 ACCGCTTCCAG | TGCTGGAACTTTGCCTGTCACCTTTCGTTGCCTGGAAGAAAATCTGGGG    c.1140
 T  A  S  S  |  A  G  T  L  P  V  T  F  R  C  L  E  E  N  L  G      p.380

          .         .         .         .         .         .       g.137716
 ATTGATAAGCGTGTGACTAGATTCGTCCTTCCTGTTGGAGCAACCATTAACATGGATGGT       c.1200
 I  D  K  R  V  T  R  F  V  L  P  V  G  A  T  I  N  M  D  G         p.400

          .         .         .         .         .         .       g.137776
 ACAGCCCTTTATGAAGCGGTAGCCGCCATCTTTATAGCCCAAATGAATGGTGTTGTCCTG       c.1260
 T  A  L  Y  E  A  V  A  A  I  F  I  A  Q  M  N  G  V  V  L         p.420

          .         .       | 09 .         .         .         .    g.143591
 GATGGAGGACAGATTGTGACTGTAAG | CCTCACAGCCACCCTGGCAAGCGTCGGCGCGGCC    c.1320
 D  G  G  Q  I  V  T  V  S  |  L  T  A  T  L  A  S  V  G  A  A      p.440

          .         .         .         .         .         .       g.143651
 AGTATCCCCAGTGCCGGGCTGGTCACCATGCTCCTCATTCTGACAGCCGTGGGCCTGCCA       c.1380
 S  I  P  S  A  G  L  V  T  M  L  L  I  L  T  A  V  G  L  P         p.460

          .         .         .         .  | 10      .         .    g.158819
 ACAGAGGACATCAGCCTGCTGGTGGCTGTGGACTGGCTGCT | GGACAGGATGAGAACTTCA    c.1440
 T  E  D  I  S  L  L  V  A  V  D  W  L  L  |  D  R  M  R  T  S      p.480

          .         .         .         .         .         .       g.158879
 GTCAATGTTGTGGGTGACTCTTTTGGGGCTGGGATAGTCTATCACCTCTCCAAGTCTGAG       c.1500
 V  N  V  V  G  D  S  F  G  A  G  I  V  Y  H  L  S  K  S  E         p.500

          .         .         .         .         .         .       g.158939
 CTGGATACCATTGACTCCCAGCATCGAGTGCATGAAGATATTGAAATGACCAAGACTCAA       c.1560
 L  D  T  I  D  S  Q  H  R  V  H  E  D  I  E  M  T  K  T  Q         p.520

          .         .         .         .         .         .       g.158999
 TCCATTTATGATGACATGAAGAACCACAGGGAAAGCAACTCTAATCAATGTGTCTATGCT       c.1620
 S  I  Y  D  D  M  K  N  H  R  E  S  N  S  N  Q  C  V  Y  A         p.540

          .         .         .    | 11    .         .         .    g.163620
 GCACACAACTCTGTCATAGTAGATGAATGCAAG | GTAACTCTGGCAGCCAATGGAAAGTCA    c.1680
 A  H  N  S  V  I  V  D  E  C  K   | V  T  L  A  A  N  G  K  S      p.560

          .         .         .         .                           g.163665
 GCCGACTGCAGTGTTGAGGAAGAACCTTGGAAACGTGAGAAATAA                      c.1725
 A  D  C  S  V  E  E  E  P  W  K  R  E  K  X                        p.574

          .         .         .         .         .         .       g.163725
 ggatatgagtctcagcaaattcttgaataaactccccagcgtatcctatggtaactgatg       c.*60

          .         .         .         .         .         .       g.163785
 atataaacaagctttctttaaaaaggaaaaaaatgcgtatatttctatgtttacttaatc       c.*120

          .         .         .         .         .         .       g.163845
 tgttagccgaggcttagaggagctcttgtgagtcagtgatgacaggcacggtgctgtgtc       c.*180

          .         .         .         .         .         .       g.163905
 tttgccaaataatgctttataaccgtctaattttctcacttgtattattatttgaatgga       c.*240

          .         .         .         .         .         .       g.163965
 tgctgctggaggaatcagttggaattgaagacacgttcttgccagcttcccttttctccc       c.*300

          .         .         .         .         .         .       g.164025
 aagatgcagaaatgtggatgctcttttcccaggggacatgagtaaagcagtgtggtacac       c.*360

          .         .         .         .         .         .       g.164085
 tccagggacttgggaaaatgagcaaacacacagcgtgttattccttaaagtgttctccat       c.*420

          .         .         .         .         .         .       g.164145
 gtctcgccttgttatgcacaagagattctattaaaagcctctagaagtaactccccttaa       c.*480

          .         .         .         .         .         .       g.164205
 aatgtctagtaaagcttgcacatggattgattaaaagcaaatacctgtcttagggaattc       c.*540

          .         .         .         .         .         .       g.164265
 tgacaatttatcttccatatgctctttaagtaaaatgtttcaaagacagttttaaaggga       c.*600

          .         .         .         .         .         .       g.164325
 gccatgctcttaaaggcagttgattaaagaacctgttacatctctgccttaccctgtgta       c.*660

          .         .         .         .         .         .       g.164385
 atctgtgagaacaatggttgaaatttcaaagtatgtttcattattctttctaaatttgat       c.*720

          .         .         .         .         .         .       g.164445
 aattgattaggaagtattttatatataaccactgtagatattgacaaaagtaagagagca       c.*780

          .         .         .         .         .         .       g.164505
 cagtcaacataaagtttaaccagagttaaatattcaaatttatttatgttcggtttgcct       c.*840

          .         .         .         .         .         .       g.164565
 tcacctggtgtagtaaaatcaaatgagattatttggtatgtgttttgctttgtttaaccc       c.*900

          .         .         .         .         .         .       g.164625
 aaaagattattttttggttcctaaagaaaaagatatttttaatctgtcaattatttcagt       c.*960

          .         .         .         .         .         .       g.164685
 catcatctcatcgtcctagaaagcctggtcattttactgtcctcacacatggaagacact       c.*1020

          .         .         .         .         .         .       g.164745
 tgtgttggctgtgcctcttttaatgtcatctcttgatgaaacaaaaatactggtatttat       c.*1080

          .         .         .         .         .         .       g.164805
 ccaatatgttgaaagcgttttgttatcttctatcaaagcacataaaaccagttataggac       c.*1140

          .         .         .         .         .         .       g.164865
 acagttggaagcagagccagtcttcctcctcagtcttctcagtagaaaggaacagaaaac       c.*1200

          .         .         .         .         .         .       g.164925
 aaacatctgtgcaaaaccctataaaagtgatattcctatggcagagtccaggcagccttg       c.*1260

          .         .         .         .         .         .       g.164985
 aacaatgacatggcaacaaaggatggctctgtacaacttcacagatggaatcttgtttaa       c.*1320

          .         .         .         .         .         .       g.165045
 ggctgtgaagttttaaggaataaataatataattggtgtagcacagtgccttgcatgcag       c.*1380

          .         .         .         .         .         .       g.165105
 taggcagccaacaaatccttaatgattggtaatgcaagctaaaatttttaatgtctctac       c.*1440

          .         .         .         .         .         .       g.165165
 tatccttttttattgaataacgcacagtattttcctaaggttgctgggtttgggagtaag       c.*1500

          .         .         .         .         .         .       g.165225
 cttgggacttgaatcattgagaaataaagcacatttgactctaagaagtatgtagaacct       c.*1560

          .         .         .         .         .         .       g.165285
 tgtttataggtgagaataggctgtattatatgaaaccagcggagggatgctgagacagtc       c.*1620

          .         .         .         .         .         .       g.165345
 atggtttatagaatccaaattctctgagatgagggtgcttatggacctcaaatagccttt       c.*1680

          .         .         .         .         .         .       g.165405
 cttatctgctccttgtgacttctctcttttaaatcagatacctttgaaacatacaagaga       c.*1740

          .         .         .         .         .         .       g.165465
 catgagattccagttgtttttgtctcctaaaccctagtgatttttggataaggatcacta       c.*1800

          .         .         .         .         .         .       g.165525
 ctgaacagtattaggcaacttttcatttttgcttttcaaatgacattggtctttatttcc       c.*1860

          .         .         .         .         .         .       g.165585
 agtagatgggcagtaaacagggtcagggtggtcaagggatatgattaagtgtagtagtag       c.*1920

          .         .         .         .         .         .       g.165645
 aaaatgcattctttttttttttttttttttagacagagtcttgctctgttgctcaggctg       c.*1980

          .         .         .         .         .         .       g.165705
 gagtacagtggcacgatctcagctcactgcactgcaatgtccacctctctagttcaagcg       c.*2040

          .         .         .         .         .         .       g.165765
 attctcctgtctcagcctcccgagtagctgggactacaggcacatgccaccatgcctggc       c.*2100

          .         .         .         .         .         .       g.165825
 taattttttgtatttttagtacagatgggtttcattatgttagccaggatggtctcgatc       c.*2160

          .         .         .         .         .         .       g.165885
 tcctgacctcatgatccacccgccatggcctcccaaagtgctgggattacaggcgtgagc       c.*2220

          .         .         .         .         .         .       g.165945
 caccgtgcccggccagaaaatacattctttacagcaaatgttataggttaaggagacagt       c.*2280

          .         .         .         .         .         .       g.166005
 tcctgggtttagctgtgaaactgtttaggattttctttaagtggtgttcccaagagcttt       c.*2340

          .         .         .         .         .         .       g.166065
 tttctggtaagttggaggctataggcaaagcgtctaggagcttgttgttttttgctatgg       c.*2400

          .         .         .         .         .         .       g.166125
 aaggccagctttgggatctatatacatgggcatgtttctcaatggagtggtcacaggatt       c.*2460

          .         .         .         .         .         .       g.166185
 ctcttctcagaactctgcctgaaacctttccggtgtgttttgtcttcaactttttcctag       c.*2520

          .         .         .         .         .         .       g.166245
 ctatcctattagcctgtaaatatgtcagcagacaatgtgtttggaagaaacaaggtgtac       c.*2580

          .         .         .         .         .         .       g.166305
 aacttcacaaagcaagttttttctggtctgagacttactgtgtgcaggaagtctcgtgag       c.*2640

          .         .         .         .         .         .       g.166365
 aatatacttagaaaatcacacttatctggaaattcaataagtcatattaaaaatatacaa       c.*2700

          .         .         .         .         .         .       g.166425
 tttcttgaactcaggactagcctgaaaatccaaaatgcatgtagagttgacatgttgaca       c.*2760

          .         .         .         .         .         .       g.166485
 tatgtctatgtcctctgtttttatttaagcctcatttatttctcccttgccatgcccatt       c.*2820

          .         .         .         .         .         .       g.166545
 tgggattttctttgcccagcatatgtgccataaacagaacaaatggatccagggtatacc       c.*2880

          .         .         .         .         .         .       g.166605
 tctaataacctttatctaaatagaatacatttaacctgtcaattatatgtatagatttat       c.*2940

          .         .         .         .         .         .       g.166665
 cctaattggttcaacatatatatgaatgcttgtaatagtctgttactatttgataatgca       c.*3000

          .         .         .         .         .         .       g.166725
 taaatgttatatttatatacagttacagcaggccagaaacatacatacactgcatcctgt       c.*3060

          .         .         .         .         .         .       g.166785
 aaggtctgtaaatcagggcttcggcaatgccattttgctatagactcattcatgtttttt       c.*3120

          .         .         .         .         .         .       g.166845
 aggaatcagaatcatttcaggagaaaaccaactaagtagactttaattcttctctttctc       c.*3180

          .         .         .         .         .         .       g.166905
 attcttgccctttgagaaacccaagtggaatcatcacttaattacttactcaaattcaat       c.*3240

          .         .         .         .         .         .       g.166965
 gaatcaaatccaatccaatcagtgagaagaatagcttatctttcaaggtaatactttacc       c.*3300

          .         .         .         .         .         .       g.167025
 ttagatctttgagggcatgcttcccatacaaagagcatcagaaaatcagggcaatcatct       c.*3360

          .         .         .         .         .         .       g.167085
 agatctcacagatcttcaacataggactctaggttatgagagctgaaccacatagctatc       c.*3420

          .         .         .         .         .         .       g.167145
 agtttcagtttttacttcctattgagtgtgtagaaacacagcctatggttttgctgtctg       c.*3480

          .         .         .         .         .         .       g.167205
 cggaagttaccataccctgtaaaagacaaatatttctttctcctctcgaaccactagtca       c.*3540

          .         .         .         .         .         .       g.167265
 gcctggatattcatgaaagctgaaagaaggggtgccaaaatgcctagctcctggatttag       c.*3600

          .         .         .         .         .         .       g.167325
 actcatggaatatgagaaaggcttagggaaaattcaagtcatggggagattcctgctagg       c.*3660

          .         .         .         .         .         .       g.167385
 tgatgccaggaatctcaatgacctgttgattagagggtctctggtcatttccacttgtgt       c.*3720

          .         .         .         .         .         .       g.167445
 gtggagaaatacatcatttgcatatgtatctagtcaagaagcccttttggagcaaagtgg       c.*3780

          .         .         .         .         .         .       g.167505
 ttgggaaactcatttactgggtccaccaaaggaaacccaattctgccatgtttttgcaaa       c.*3840

          .         .         .         .         .         .       g.167565
 tactacacgtccctttgctctcaatagcaaaagtgatgttatagttttttttacttttgt       c.*3900

          .         .         .         .         .         .       g.167625
 cagaatcaaggcttcggccacctgtgcaatattttcccatggaatgcagcagtaaatcca       c.*3960

          .         .         .         .         .         .       g.167685
 agtaggtatatccgtgctcagagagaattctccatagttctgactcctgaaaaacaagtc       c.*4020

          .         .         .         .         .         .       g.167745
 tcattagctctcatctagtttgatgactaaaagtgcacagcagttataccccagtggaag       c.*4080

          .         .         .         .         .         .       g.167805
 tgatttttctcacctagctgctctctaactcttacggctatctagttgtctgagctgctg       c.*4140

          .         .         .         .         .         .       g.167865
 gtttgttttacttattctccaactgaactcattccaaaccaagaaaaaggaccaaatgaa       c.*4200

          .         .         .         .         .         .       g.167925
 attttcagttattatcatacttgctccttgaataagaatgctagagtctggaggcagaag       c.*4260

          .         .         .         .         .         .       g.167985
 aagactaagttaaaaaaaaaacagcctgaaggaattctggagtgagttttgtaagtctaa       c.*4320

          .         .         .         .         .         .       g.168045
 ttgtcaaagaagataaatggtctcagtatctgtagtaatttctggttaagcctagaggga       c.*4380

          .         .         .         .         .         .       g.168105
 tcactgagtgccaatccaagcaggtggcactagaggcagattgttctcctagcatagagt       c.*4440

          .         .         .         .         .         .       g.168165
 gagtttccagctgctcatgacacattttcttatgattttccctaaaagaaaaccaaattt       c.*4500

          .         .         .         .         .         .       g.168225
 tctactccacctcttcctttcctatcattccacttattgttgctgctttgctaacagcca       c.*4560

          .         .         .         .         .         .       g.168285
 gcttagtaagccatcacacaagttagtgtgaggcttggttttaaaatagataacagagaa       c.*4620

          .         .         .         .         .         .       g.168345
 tcttgattaaatagtatccaactttgtagcataacacagctaattcaggcaatgacatag       c.*4680

          .         .         .         .         .         .       g.168405
 agatgataagaaacaacatggtttggtagagggaacatttgatttagactctgcccattt       c.*4740

          .         .         .         .         .         .       g.168465
 ttagctgtatgacttacataagtcattttgtgtccaagcctcattttctcccatatgaaa       c.*4800

          .         .         .         .         .         .       g.168525
 agtgaaggggttggattaaatgactaaaatccccttccagccctatgagcccaatgtatt       c.*4860

          .         .         .         .         .         .       g.168585
 atgatctctgctttgtttccttcttaagaggcttcctactataaaatgtgacctatttac       c.*4920

          .         .         .         .         .         .       g.168645
 attttaagttgaagtagcccacaataatgaataatcaatttagatttttctcatctcctt       c.*4980

          .         .         .         .         .         .       g.168705
 tgggagaaattaaattcaagcctctattcatttgatgttttacaacaagcttcaaagttg       c.*5040

          .         .         .         .         .         .       g.168765
 gccatgttcattcacagtttgatattttgagacaccaataaaagttttttaataaaagtt       c.*5100

          .         .         .         .         .         .       g.168825
 cccttgacttaaactcaccttcctaatagaagtagtgatttggctcacggaaaaatgttt       c.*5160

          .         .         .         .         .         .       g.168885
 ccagagtcaacatgagaggactggatgaacctacagcctcactcaagctgttgcatcatt       c.*5220

          .         .         .         .         .         .       g.168945
 gctgctgtagcaacagagccctctctgaatacccaaaacacacaattttctccaacaatt       c.*5280

          .         .         .         .         .         .       g.169005
 ctaattgcccacccagtatgggaatttgagagcctttggtgaataaccttgatcactctt       c.*5340

          .         .         .         .         .         .       g.169065
 ttgaaatttggtacaacacttgcacaatcacggcaactgtttgtaaatatcttttcttct       c.*5400

          .         .         .         .         .         .       g.169125
 ccgccagtatgtagacatgcacacccattcacaagtaagcccgcaaattcattttcacat       c.*5460

          .         .         .         .         .         .       g.169185
 tttcctcttggtttgtttttatcatgggtatcacattgcaggaagagatgctctaactta       c.*5520

          .         .         .         .         .         .       g.169245
 caagaatggaattttctgactatcattgccctcttcaaggcctgattagtttgtagggtg       c.*5580

          .         .         .         .         .         .       g.169305
 gatgggatacaatgcatggtctacaaggtccatgtcaccagccatgatctttaaacaacc       c.*5640

          .         .         .         .         .         .       g.169365
 tcttgcactttctggcactgctgcaatggcccatggtggacacctctgctgtttgtccaa       c.*5700

          .         .         .         .         .         .       g.169425
 acttctgctaaatagagtagtgttggtatttgttgtgttgtgaactcctttgttgtcaga       c.*5760

          .         .         .         .         .         .       g.169485
 gaagacttcagctcttcaggtttgcaagggcaagatgtaaagctaggactgaaaggattg       c.*5820

          .         .         .         .         .         .       g.169545
 ggttttgtttttcggccggcttttttccattagtgcaaaaaacctgatgcaagggcagca       c.*5880

          .         .         .         .         .         .       g.169605
 agataaacacaatttcttcattgacccagataagaacctgtagaaaagtgagagatgccc       c.*5940

          .         .         .         .         .         .       g.169665
 ctaagttcctatttcatttatcctaaataatatcctgaataactactgatcagttttttt       c.*6000

          .         .         .         .         .         .       g.169725
 ctatgtccagccttgcttcactttccaacctccaggccaaatattcattttgatatttta       c.*6060

          .         .         .         .         .         .       g.169785
 caaaatccttctggtttttacacagggcccttttgtgctgagaataaaaccagctattgg       c.*6120

          .         .         .         .         .         .       g.169845
 aacagacctcactgctttgtagagtcagaagttgacctagagaatgggtagcaacaggtc       c.*6180

          .         .         .         .         .         .       g.169905
 ctcagtttctctggagacacccccaatccttgggtgagtgttgaaacctgacaactgact       c.*6240

          .         .         .         .         .         .       g.169965
 gttagccttgtcatcatcctcactggagatggagatgttgcagtcggagcctcactcctt       c.*6300

          .         .         .         .         .         .       g.170025
 ctggggcactgtttcttctcatggcaaccattttgcctgcctggaaacagcctgttgcct       c.*6360

          .         .         .         .         .         .       g.170085
 ttgctagggggcaaatacacacactagccaaggaagttggtccagcacatctctgaggtt       c.*6420

          .         .         .         .         .         .       g.170145
 tctcccccatggacccatggagcgaattccctgagataaatgatcagaaagttggctgtc       c.*6480

          .         .         .         .         .         .       g.170205
 tggtggtttaatactccataagagttacttcccttatagaaagtcatcctttggcatcta       c.*6540

          .         .         .         .         .         .       g.170265
 gatttttctacaaatcaccttaactccctccctttctctttctcctggaaaacctcagca       c.*6600

          .         .         .         .         .         .       g.170325
 ttgcatctccatgttgcacaacacagatcagattatctggtcactatagagatttgtata       c.*6660

          .         .         .         .         .         .       g.170385
 taaaaaaactacttttttgaggattttgtatattgtttttctatttgttttctacagctt       c.*6720

          .         .         .         .         .         .       g.170445
 gaggaaagagctggcaaactgtgaatctaacttgatcttgttgccagcagatatattttg       c.*6780

          .         .         .         .         .         .       g.170505
 gcttcctggtaagagtctgtgttaccagggacaatatattgccctctgatcagtattgca       c.*6840

          .         .         .         .         .         .       g.170565
 ccctaaatccacaaattcctccagcccagtcttacatttttttaaacaaatcccctagct       c.*6900

          .         .         .         .         .         .       g.170625
 tgtttgctattatttataaagagcattagaaaatgtatttatagacctggatgttatatg       c.*6960

          .         .         .         .         .         .       g.170685
 tttaatattaatttagcctttaataatgttataggtttgtaactattcttcagaaattat       c.*7020

          .         .         .         .         .         .       g.170745
 aaagaactcagtgtagactgaattaatctatttagtatctgtaattttgcagacatattt       c.*7080

          .         .         .         .         .         .       g.170805
 tcttacagtattttctatgtaaccacacatgtagaattataactaattagagcacaagaa       c.*7140

          .         .         .         .         .         .       g.170865
 gtttcttcagcaatttagagctaccaattgtttcttgactatatagtcacatttgacaaa       c.*7200

          .         .         .         .         .         .       g.170925
 tttaagaacccagtctttagtgatgcaataaacaaaatgaaccattaagaacaaggaatt       c.*7260

          .         .         .         .         .         .       g.170985
 gcttaaatcccttagctggtgaggatatacatctaaataattcatctttctaactcaagg       c.*7320

          .         .         .         .         .         .       g.171045
 aatggtgctgattttttaaatgtttgacaccaggccttgtttttccagctgagcattctc       c.*7380

          .         .         .         .         .         .       g.171105
 attttgcttttctctaagactatcaaagacaaggtattaatagtaggattattcctagat       c.*7440

          .         .         .         .         .         .       g.171165
 cagaatgtttcatacattcctaaaggtttatgtggaaattggcttaggaaaactttgagt       c.*7500

          .         .         .         .         .         .       g.171225
 agcagagactgaggatgagtgctagagatgaaatcaggacagatttgttgcagttaattc       c.*7560

          .         .         .         .         .         .       g.171285
 ttgccaagcaaattagtggtaaatgtcacattgttatgtgaattgagcacatatttttaa       c.*7620

          .         .         .         .         .         .       g.171345
 agaaagtttacaaaaaatttttagaaccaactatgaggcaatactgtatcactgggggct       c.*7680

          .         .         .         .         .         .       g.171405
 gggagtgggggcttagaatcatactgaaattgtttaaaagcagcccaggtagtttctgtc       c.*7740

          .         .         .         .         .         .       g.171465
 ctcaggtgaataacagactatataacttccccgaaaggtaaaacgatagccactgcagag       c.*7800

          .         .         .         .         .         .       g.171525
 acgaggtgtcttccttccaccaaatactttctgagatggtggtaggagtagtatttttac       c.*7860

          .         .         .         .         .         .       g.171585
 cgtggtttaaaaagtagtcagttacatagaaagtgtattggtatgtatttgaacctgctc       c.*7920

          .         .         .         .         .         .       g.171645
 ttcattaaacaaacagattagatgtaccctcgactggcaataattgtatctattttcaag       c.*7980

          .         .         .         .         .         .       g.171705
 tacagctagctgtcaaagcatgaagctcttgtgtatacacactgacacttggttcacgca       c.*8040

          .         .         .         .         .         .       g.171765
 tgaagaacagtgcctatgcactttgtgtagctataatgtaggtatctaggtgtaatttca       c.*8100

          .         .         .         .         .         .       g.171825
 gtgaaatggtgtatagatgtattgtaatttaaatgtatatgttatttttggctattcatc       c.*8160

          .         .         .         .         .         .       g.171885
 taaatgcagtagacatgttgatcggtgttttgcaaacatttctttttccttcttagataa       c.*8220

          .         .         .         .         .         .       g.171945
 ctagtcgtgaatcatttctcctctttctcagtgtggcttgggaatatatatgagtgaaga       c.*8280

          .         .         .         .         .         .       g.172005
 atttatctgtgaatcctttgtactgatgattgtttgaaagtctgtgtgtgtccagcacct       c.*8340

          .         .         .         .         .         .       g.172065
 ttgtaaatacacaattcagagcagggatgggctgggtgtgtgtcctggttcttagtgaaa       c.*8400

          .         .         .         .         .         .       g.172125
 ggtcatctcatgtctgtttaatacatggtgaatgcaactgtggaacttttgattacctag       c.*8460

          .         .         .         .         .         .       g.172185
 acttaggtaggtttagaatgagaacatccatctacagtcctcctttgcttggtggattgg       c.*8520

          .         .         .         .         .         .       g.172245
 gctcagaggaacaaaaagttagtctgactctgtgcatattagcatcatgtctttagagaa       c.*8580

          .         .         .         .         .         .       g.172305
 aggtcagcctctctggttgccaaatactcatcatgatgctcatgacttaaaggttctgag       c.*8640

          .         .         .         .         .         .       g.172365
 gagccttgtctcccttggatttttgagtcagggtacaggaaaaaacattgctgactaact       c.*8700

          .         .         .         .         .         .       g.172425
 aactgcaaatgcatctgcaggtgaaaccctacgaaagcacagttctggctataaacttca       c.*8760

          .         .         .         .         .         .       g.172485
 gagttctctgtaaaaaacttagagcactagaagcacaggaatagtgagtgtacagcttat       c.*8820

          .         .         .         .         .         .       g.172545
 gcggttgtagaggggcaactgatgaacacaggtcccacatatatgagggagtatgacgtt       c.*8880

          .         .         .         .         .         .       g.172605
 ctctacctaatatgttctgtgtgcatgttttgaatgattgaagatgggattaactaatgc       c.*8940

          .         .         .         .         .         .       g.172665
 aagtttacagttgcctcctaaaacacacattctgtataattatcgctaaatacaatgctg       c.*9000

          .         .         .         .         .         .       g.172725
 tgaggtctatagttcctgtaacccctttctcctccccaaggacagagaagaactagccat       c.*9060

          .         .         .         .         .         .       g.172785
 gtgctatagggaaccctgagtgccctactcttttcccaagaagggtaaagcctacaatat       c.*9120

          .         .         .         .         .         .       g.172845
 catcagggggcatgaagcacattaatttgcagtggctgcttcatatgaggagatatggtg       c.*9180

          .         .         .         .         .         .       g.172905
 gacaggctaatttttccttgaaaatgtggcttcttcaactcctttcaaatttaggatgga       c.*9240

          .         .         .         .         .         .       g.172965
 atacttcctgaaataaaactgggctttatgcaggattctctttgaaaattcttgtatgtc       c.*9300

          .         .         .         .         .         .       g.173025
 cagaacaaaagataaaactaattgtattcctcacattcacaatccccattggtctgaagt       c.*9360

          .         .         .         .         .         .       g.173085
 cacgtagcacagagcatctatagcacatagtgtttaaagactaatgaatgcaaaaagata       c.*9420

          .         .         .         .         .         .       g.173145
 aaatcttcaactaatttttgaattgtttctcatatatgctactagaaaatgccttgttga       c.*9480

          .         .         .         .         .         .       g.173205
 tgaagcacattttgggtagttgaggtcttttgttttcgcctttagctttctaagctttct       c.*9540

          .         .         .         .         .         .       g.173265
 tacaatgtggactgattactgtaacatttcacgtgtaaaataactggatattctttatat       c.*9600

          .         .         .         .         .         .       g.173325
 actggaaataacctgtgaatccaatatttcactaagtgttttaacttttgtgtatatatc       c.*9660

          .         .                                               g.173354
 tctcatcaataaatgtggatttcaattta                                      c.*9689

 (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 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 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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