(used for variant description)
(last modified April 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_139319.2 in the SLC17A8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021175.1, covering SLC17A8 transcript NM_139319.2.
(upstream sequence)
. g.5013
gagagtggctgcc c.-301
. . . . . . g.5073
tgagacagctgccacaggctgctgcagagcgtgcagcttttgcaagggactgaattccca c.-241
. . . . . . g.5133
gccagacaccccttggactcttttttggaggggtggggagcagagagaggagggagttgt c.-181
. . . . . . g.5193
cttatcttggaagatccgagctgggtttcatctcctttttgattttgagtagttccctcc c.-121
. . . . . . g.5253
acgagaactgacttccaggtgttcaccaagggaaacaaggtggttctcacactggaaatg c.-61
. . . . . . g.5313
aggaaggatgacagtttttgagactgactgttaacggctcagaggtgcccctcattcaaa c.-1
. . . . . . g.5373
ATGCCTTTTAAAGCATTTGATACCTTCAAAGAAAAAATTCTGAAACCTGGGAAGGAAGGA c.60
M P F K A F D T F K E K I L K P G K E G p.20
. . . . | 02 . . g.28641
GTGAAGAACGCCGTGGGAGATTCTTTGGGAATTTTACAAAG | AAAAATCGATGGGACAACT c.120
V K N A V G D S L G I L Q R | K I D G T T p.40
. . . . . . g.28701
GAGGAAGAAGATAACATTGAGCTGAATGAAGAAGGAAGGCCGGTGCAGACGTCCAGGCCA c.180
E E E D N I E L N E E G R P V Q T S R P p.60
. . . . . . g.28761
AGCCCCCCACTCTGCGACTGCCACTGCTGCGGCCTCCCCAAGCGTTACATCATTGCTATC c.240
S P P L C D C H C C G L P K R Y I I A I p.80
. . . . . . g.28821
ATGAGTGGGCTGGGATTCTGCATTTCCTTTGGGATCCGGTGCAATCTTGGAGTTGCCATT c.300
M S G L G F C I S F G I R C N L G V A I p.100
. . . . . | 03 . g.38928
GTGGAAATGGTCAACAATAGCACCGTATATGTTGATGGAAAACCGGAAATTCAG | ACAGCA c.360
V E M V N N S T V Y V D G K P E I Q | T A p.120
. . . . . . g.38988
CAGTTTAACTGGGATCCAGAAACAGTGGGCCTTATCCATGGATCTTTTTTCTGGGGCTAT c.420
Q F N W D P E T V G L I H G S F F W G Y p.140
. . . . . | 04 . g.41297
ATTATGACACAAATTCCAGGTGGTTTCATTTCAAACAAGTTTGCTGCTAACAG | GGTCTTT c.480
I M T Q I P G G F I S N K F A A N R | V F p.160
. . . . . . g.41357
GGAGCTGCCATCTTCTTAACATCGACTCTGAACATGTTTATTCCCTCTGCAGCCAGAGTG c.540
G A A I F L T S T L N M F I P S A A R V p.180
. . . . | 05 . g.44263
CATTACGGATGCGTCATGTGTGTCAGAATTCTGCAAGGTTTAGTGGAG | GGTGTGACCTAC c.600
H Y G C V M C V R I L Q G L V E | G V T Y p.200
. . . . . . g.44323
CCAGCCTGCCATGGGATGTGGAGTAAGTGGGCACCACCTTTGGAGAGAAGCCGACTGGCC c.660
P A C H G M W S K W A P P L E R S R L A p.220
. | 06 . . . . . g.49742
ACAACCTCTTTTTGTG | GTTCCTATGCAGGGGCAGTGGTTGCCATGCCCCTGGCTGGGGTG c.720
T T S F C G | S Y A G A V V A M P L A G V p.240
. . . . | 07 . . g.50278
TTGGTGCAGTACATTGGATGGTCCTCTGTCTTTTATATTTATG | GCATGTTTGGGATTATT c.780
L V Q Y I G W S S V F Y I Y G | M F G I I p.260
. . . . . . g.50338
TGGTACATGTTTTGGCTGTTGCAGGCCTATGAGTGCCCAGCAGCTCATCCAACAATATCC c.840
W Y M F W L L Q A Y E C P A A H P T I S p.280
. . . . . . g.50398
AATGAGGAGAAGACCTATATAGAGACAAGCATAGGAGAGGGGGCCAACGTGGTTAGTCTA c.900
N E E K T Y I E T S I G E G A N V V S L p.300
| 08 . . . . . . g.50574
AGT | AAATTTAGTACCCCATGGAAAAGATTTTTCACATCTTTGCCGGTTTATGCAATCATT c.960
S | K F S T P W K R F F T S L P V Y A I I p.320
. . . . . . g.50634
GTGGCAAATTTTTGCAGAAGCTGGACCTTTTATTTGCTCCTCATAAGTCAGCCTGCTTAT c.1020
V A N F C R S W T F Y L L L I S Q P A Y p.340
. . . | 09 . . . g.51986
TTTGAAGAGGTCTTTGGATTTGCAATAAGTAAG | GTGGGTCTCTTGTCAGCAGTCCCACAC c.1080
F E E V F G F A I S K | V G L L S A V P H p.360
. . . . . . g.52046
ATGGTTATGACAATCGTTGTACCTATTGGAGGACAATTGGCTGATTATTTAAGAAGCAGA c.1140
M V M T I V V P I G G Q L A D Y L R S R p.380
. . . . | 10 . . g.60705
CAAATTTTAACCACAACTGCTGTCAGAAAAATCATGAACTGTGGAG | GTTTTGGCATGGAG c.1200
Q I L T T T A V R K I M N C G G | F G M E p.400
. . . . . . g.60765
GCAACCTTACTCCTGGTGGTTGGCTTTTCGCATACCAAAGGGGTGGCTATCTCCTTTCTG c.1260
A T L L L V V G F S H T K G V A I S F L p.420
. . . | 11. . . g.65973
GTACTTGCTGTAGGATTTAGTGGCTTCGCTATTTCAG | GTTTTAATGTCAACCACCTGGAC c.1320
V L A V G F S G F A I S G | F N V N H L D p.440
. . . . . . g.66033
ATTGCCCCACGCTATGCCAGCATTCTCATGGGGATCTCAAACGGAGTGGGAACCCTCTCT c.1380
I A P R Y A S I L M G I S N G V G T L S p.460
. . . . | 12 . . g.67751
GGAATGGTCTGTCCCCTCATTGTCGGTGCAATGACCAGGCACAAG | ACCCGTGAAGAATGG c.1440
G M V C P L I V G A M T R H K | T R E E W p.480
. . . . . . g.67811
CAGAATGTGTTCCTCATAGCTGCCCTGGTGCATTACAGTGGTGTGATCTTCTATGGGGTC c.1500
Q N V F L I A A L V H Y S G V I F Y G V p.500
. . . . . . g.67871
TTTGCTTCTGGGGAGAAACAGGAGTGGGCTGACCCAGAGAATCTCTCTGAGGAGAAATGT c.1560
F A S G E K Q E W A D P E N L S E E K C p.520
. . . . . . g.67931
GGAATCATTGACCAGGACGAATTAGCTGAGGAGATAGAACTCAACCATGAGAGTTTTGCG c.1620
G I I D Q D E L A E E I E L N H E S F A p.540
. . . . . . g.67991
AGTCCCAAAAAGAAGATGTCTTATGGAGCCACCTCCCAGAATTGTGAAGTCCAGAAGAAG c.1680
S P K K K M S Y G A T S Q N C E V Q K K p.560
. . . . . . g.68051
GAATGGAAAGGACAGAGAGGAGCGACCCTTGATGAGGAAGAGCTGACATCCTACCAGAAT c.1740
E W K G Q R G A T L D E E E L T S Y Q N p.580
. . . g.68081
GAAGAGAGAAACTTCTCAACTATATCCTAA c.1770
E E R N F S T I S X p.589
. . . . . . g.68141
tgtctgagaggcacttctgtcttctccttactttagaaacagaaagtatccatacctatt c.*60
. . . . . . g.68201
gcctttcttgtagcccagcttgccagaggtccaaatattgggaggggagaagatctaacc c.*120
. . . . . . g.68261
agcaacagggaaaagagaaatattatctttcaatgacatgtataggtaaggagctgcgct c.*180
. . . . . . g.68321
cagttgataacatagttgataatacatattttttgaattgacagttgacccttctctcaa c.*240
. . . . . . g.68381
agagctaaacttattcagaaaggaatgactagaagaaaaaggagacaataccatgttgtt c.*300
. . . . . . g.68441
caaagaaacattgaaggaaattgggatgtttggccagaaggaatgtaaacagtagtagta c.*360
. . . . . . g.68501
gctgccaccacatctctagggtagccatgcagaggagggcttcatattcccaataaaccc c.*420
. . . . . . g.68561
cacgttgtggcaggtgctttataaacactcttatttaatctccacacctttatgacacac c.*480
. . . . . . g.68621
atttcttatccccattttacaaccaaggcatctaaagcaacaagaaatgaacttgcccaa c.*540
. . . . . . g.68681
ggtcatctgccagggtcagtgctgagactgttgaagctctcaataggtggcagttttagg c.*600
. . . . . . g.68741
gaagatttccattcagtgtagggaagacatttgtaataatgaaaactgaaaatggagtaa c.*660
. . . . . . g.68801
ttgtgagtaactcaccactttagcaggtgttggggaagggaaacatttgggttgatgagg c.*720
. . . . . . g.68861
cagaggggattcaaatgtgtgagaggctagattcaaagaccctcagtgttctatgttatc c.*780
. . . . . . g.68921
tgaagagtcaaatggttttgtgactccatagtttttaaagtaataagggtcaaagactac c.*840
. . . . . . g.68981
atcagagattcaaataggtttttaaagaaaagctaagcaagagagccaaatttttagaaa c.*900
. . . . . . g.69041
tctgatggtcaaaatagctgaaagcagtaaacaagagattggctattaaatttcaacttt c.*960
. . . . . . g.69101
ccataatattaagaatgtagctaaatgatgtcccaaactacttacaaacttttaagacat c.*1020
. . . . . . g.69161
ttaataatttaagaagtaggttcatgtgttttcttaggtaaagttcttctgaaagaattt c.*1080
. . . . . . g.69221
tctatttttaaaaaatgtatctctttagccttttctgctggagattatattaggaagttt c.*1140
. . . . . . g.69281
catcagattgtataaaattatgattttgtatcaaaagtattcatgatgactctatttgga c.*1200
. . . . . . g.69341
atgatattcagggaaatcacaataatatagcagtagttatacagagaaatactacaatga c.*1260
. . . . . . g.69401
aaacatttggggcaattagacctacagttactgttgaaaaattcacctttgattgcataa c.*1320
. . . . . . g.69461
ggcaattacatggatacttttagatatatttaaaattttaacattggcatctaaagtgtt c.*1380
. . . . . . g.69521
atttgaaaataaaattattttcctgttcattgattttaaacattttattcctactttcag c.*1440
. . . . . . g.69581
aagaaaaatataatacggaaaaaattatagatttacttgtagcttattattgtaaagtgt c.*1500
. . . . . . g.69641
tttttttttttttttttttttctaatttctcccacatgtatttctggtccccagtgatac c.*1560
. . . . . . g.69701
tagctgagttgtagtgtattttataaatggaataatcttggggaaaaattgcgattcttc c.*1620
. . . . . . g.69761
attaaataatattctttatgtcactagcatacaatttatgttagtagacatctttaaatc c.*1680
. . . . . . g.69821
tctttaatgagtgaatccatgcaagccccataaaacagttcctagcatgcagaaaatgcc c.*1740
. . . . . . g.69881
cacgtaaatagctgtcatcatcattatcttttaacattttgggggactttccagttgaaa c.*1800
. . . . . . g.69941
agaaaacatgctatgtcatttttatccattatccctggaacttattgtgaaagttgtgct c.*1860
. . . . g.69981
gttttctaagtaaaataaaaaataaaaaattagcaattta c.*1900
(downstream sequence)
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