(used for variant description)
(last modified September 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_016227.2 in the SUCO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering SUCO transcript NM_016227.2.
(upstream sequence)
. g.5842
gcgggcgtggacgagccgg c.-241
. . . . . . g.5902
tggctgcagcggcggcggtccccggagtcctgtgaagcgcccctgtccgcgcctctgtgg c.-181
. . . . . . g.5962
ggccctcagagagggctgccaggacgcgagccactgaggagccgctcagccagcgccata c.-121
. . . . . . g.6022
gcccttaggactatcggtcacattctcgcgctcctgctccggctcctccatcttggcctc c.-61
. . . . . . g.6082
ggcagtggcggctgccgggaggatgtgccgccttctggcagggggaagaaggaggagaag c.-1
. . . . . . g.6142
ATGAAGAAGCACCGGCGGGCCTTGGCCCTGGTCTCCTGCCTCTTTCTGTGCTCTCTGGTC c.60
M K K H R R A L A L V S C L F L C S L V p.20
| 02 . . . . . . g.24216
TG | GCTTCCCAGCTGGCGTGTATGTTGTAAAGAGAGTTCTTCAGCTTCAGCGTCATCATAT c.120
W | L P S W R V C C K E S S S A S A S S Y p.40
. . . . . | 03. g.28518
TACTCTCAAGATGACAACTGCGCACTAGAAAATGAAGATGTACAATTCCAGAAAAAG | AAT c.180
Y S Q D D N C A L E N E D V Q F Q K K | N p.60
. . . . . . g.28578
ACAGAGTCAAAAAAGTTAAGTCCACCGGTGGTGGAGACACTCCCTACAGTTGATTTGCAT c.240
T E S K K L S P P V V E T L P T V D L H p.80
. . . . . . g.28638
GAAGAGTCTTCCAATGCAGTTGTGGACAGTGAAACTGTTGAAAATATTTCCAGCTCATCT c.300
E E S S N A V V D S E T V E N I S S S S p.100
. . . | 04 . . . g.29954
ACCTCAGAAATCACTCCAATCTCAAAGCTTGA | TGAAATAGAAAAATCTGGTACTATTCCG c.360
T S E I T P I S K L D | E I E K S G T I P p.120
. . . . . . g.30014
ATAGCCAAACCAAGTGAAACTGAGCAGTCTGAAACTGATTGTGATGTTGGTGAGGCCCTT c.420
I A K P S E T E Q S E T D C D V G E A L p.140
. . . . . | 05 . g.30300
GATGCTAGTGCTCCAATTGAACAACCTTCCTTTGTCAGTCCACCTGACAG | CCTTGTTGGC c.480
D A S A P I E Q P S F V S P P D S | L V G p.160
. . . . . . g.30360
CAGCATATAGAAAATGTATCATCTTCACATGGTAAAGGAAAGATAACAAAATCAGAATTT c.540
Q H I E N V S S S H G K G K I T K S E F p.180
. . . . . . g.30420
GAATCAAAAGTTTCAGCAAGTGAACAGGGCGGTGGTGATCCAAAATCTGCATTGAATGCT c.600
E S K V S A S E Q G G G D P K S A L N A p.200
. . | 06 . . . . g.41704
TCAGATAATTTAAAAAATGAG | AGCTCTGATTATACAAAACCAGGAGACATTGACCCTACA c.660
S D N L K N E | S S D Y T K P G D I D P T p.220
. . . . . . g.41764
TCAGTAGCAAGTCCCAAAGATCCAGAAGATATACCAACATTTGATGAATGGAAGAAGAAA c.720
S V A S P K D P E D I P T F D E W K K K p.240
. . | 07 . . . . g.42728
GTTATGGAAGTAGAAAAAGAAAAAA | GTCAGTCGATGCATGCATCTTCTAATGGAGGTTCA c.780
V M E V E K E K S | Q S M H A S S N G G S p.260
. . . . . . g.42788
CATGCCACCAAAAAGGTCCAGAAAAATCGAAATAATTATGCCTCAGTAGAATGTGGTGCC c.840
H A T K K V Q K N R N N Y A S V E C G A p.280
. . . | 08 . . . g.43339
AAAATTCTAGCAGCTAATCCAGAAGCCAAG | AGCACATCTGCTATTCTTATAGAAAATATG c.900
K I L A A N P E A K | S T S A I L I E N M p.300
. . . | 09 . . g.46559
GATCTTTACATGTTGAATCCTTGCAGCACTAAAATTTG | GTTTGTTATTGAACTTTGTGAA c.960
D L Y M L N P C S T K I W | F V I E L C E p.320
. . . . . . g.46619
CCAATTCAAGTAAAACAGCTTGATATTGCAAATTATGAATTATTTTCTTCTACTCCTAAA c.1020
P I Q V K Q L D I A N Y E L F S S T P K p.340
. . | 10 . . . . g.48198
GATTTTCTGGTTTCTATCAGTGACAG | ATATCCAACAAATAAGTGGATTAAGCTGGGTACT c.1080
D F L V S I S D R | Y P T N K W I K L G T p.360
. . . . . . g.48258
TTTCATGGTAGAGATGAGCGGAATGTACAGAGTTTCCCTTTAGATGAACAGATGTATGCA c.1140
F H G R D E R N V Q S F P L D E Q M Y A p.380
. | 11 . . . . . g.50458
AAATATGTCAAG | GTTGAGTTGCTATCACATTTTGGATCAGAGCACTTTTGTCCATTAAGC c.1200
K Y V K | V E L L S H F G S E H F C P L S p.400
| 12 . . . . . g.50996
CTTATAAG | GGTATTTGGCACTAGCATGGTGGAAGAATATGAAGAAATTGCTGATTCCCAG c.1260
L I R | V F G T S M V E E Y E E I A D S Q p.420
. . . . | 13 . . g.51868
TATCACTCAGAACGCCAGGAACTATTTGATGAGGACTATG | ATTATCCACTGGATTATAAT c.1320
Y H S E R Q E L F D E D Y D | Y P L D Y N p.440
. . . . | 14 . . g.57678
ACTGGAGAGGATAAATCCTCAAAAAATCTTCTTGGTTCTGCTACAA | ATGCCATTCTAAAT c.1380
T G E D K S S K N L L G S A T N | A I L N p.460
. . . . . | 15 . g.58509
ATGGTGAATATTGCTGCTAATATTCTGGGAGCAAAAACTGAAGACCTGACAGAAG | GAAAT c.1440
M V N I A A N I L G A K T E D L T E G | N p.480
. . . . . . g.58569
AAAAGTATATCTGAGAATGCCACTGCCACAGCTGCACCTAAAATGCCTGAATCAACTCCT c.1500
K S I S E N A T A T A A P K M P E S T P p.500
. . | 16 . . . . g.61440
GTTTCAACTCCTGTTCCATCTCCTGA | GTATGTAACCACTGAAGTACACACACATGACATG c.1560
V S T P V P S P E | Y V T T E V H T H D M p.520
. . . . . . g.61500
GAGCCGTCAACACCAGATACTCCAAAAGAGAGTCCCATTGTACAGTTAGTTCAAGAGGAG c.1620
E P S T P D T P K E S P I V Q L V Q E E p.540
. . . . . . g.61560
GAAGAGGAGGCAAGTCCATCTACAGTGACCCTTCTGGGCAGCGGTGAACAGGAAGATGAA c.1680
E E E A S P S T V T L L G S G E Q E D E p.560
. . . . . . g.61620
TCATCACCCTGGTTTGAGTCAGAGACACAAATATTTTGCAGTGAACTGACCACAATTTGT c.1740
S S P W F E S E T Q I F C S E L T T I C p.580
. . . . . . g.61680
TGTATTTCTAGTTTTTCAGAATACATATATAAATGGTGTTCAGTTAGAGTTGCTCTTTAT c.1800
C I S S F S E Y I Y K W C S V R V A L Y p.600
. . . . . . g.61740
CGGCAGCGCAGCCGAACTGCTTTGAGTAAAGGAAAAGATTATCTTGTGTTAGCTCAACCA c.1860
R Q R S R T A L S K G K D Y L V L A Q P p.620
. . . . . . g.61800
CCCTTACTACTTCCTGCGGAATCAGTAGATGTTTCAGTATTGCAACCTCTGAGTGGAGAA c.1920
P L L L P A E S V D V S V L Q P L S G E p.640
. . . . . . g.61860
TTGGAAAATACGAATATAGAAAGGGAAGCTGAAACTGTTGTTCTGGGTGATTTAAGTAGT c.1980
L E N T N I E R E A E T V V L G D L S S p.660
. . . . . . g.61920
AGTATGCACCAGGATGACTTGGTGAATCACACTGTAGATGCAGTTGAACTTGAACCAAGC c.2040
S M H Q D D L V N H T V D A V E L E P S p.680
. . . . . . g.61980
CATTCTCAAACTCTTTCTCAGTCTCTTCTTTTAGATATTACCCCAGAAATCAATCCCTTG c.2100
H S Q T L S Q S L L L D I T P E I N P L p.700
. . . . . . g.62040
CCTAAAATAGAAGTATCTGAGTCTGTTGAATATGAGGCAGGACATATACCATCACCAGTG c.2160
P K I E V S E S V E Y E A G H I P S P V p.720
. . . . . . g.62100
ATTCCCCAAGAGAGTTCTGTTGAGATCGATAATGAAACAGAACAAAAGTCTGAGAGCTTT c.2220
I P Q E S S V E I D N E T E Q K S E S F p.740
. . . . . . g.62160
AGTTCTATAGAGAAACCATCTATTACCTATGAAACAAATAAAGTTAATGAGTTAATGGAT c.2280
S S I E K P S I T Y E T N K V N E L M D p.760
. . . . . . g.62220
AATATTATAAAAGAAGATGTGAACTCCATGCAAATTTTCACAAAGCTGTCTGAAACAATA c.2340
N I I K E D V N S M Q I F T K L S E T I p.780
. . . . . . g.62280
GTGCCACCAATAAATACAGCCACTGTACCCGACAATGAAGATGGGGAAGCCAAAATGAAT c.2400
V P P I N T A T V P D N E D G E A K M N p.800
. . . . . . g.62340
ATAGCTGACACAGCAAAGCAAACTTTGATTTCTGTTGTGGATTCTTCTTCATTACCTGAA c.2460
I A D T A K Q T L I S V V D S S S L P E p.820
. . . . . . g.62400
GTAAAAGAAGAAGAACAGTCTCCAGAAGATGCCCTTTTGAGAGGGTTACAGAGGACAGCT c.2520
V K E E E Q S P E D A L L R G L Q R T A p.840
. . . . . . g.62460
ACAGATTTTTATGCTGAATTGCAAAATTCTACAGATCTAGGATATGCTAATGGAAATCTT c.2580
T D F Y A E L Q N S T D L G Y A N G N L p.860
. . . . . . g.62520
GTACATGGATCAAACCAAAAGGAGTCAGTATTTATGAGACTTAATAATCGTATTAAAGCC c.2640
V H G S N Q K E S V F M R L N N R I K A p.880
. . . . . | 17 . g.63637
TTAGAAGTTAACATGTCTCTCAGTGGTCGCTATCTGGAGGAGCTTAGCCAAAG | GTACCGA c.2700
L E V N M S L S G R Y L E E L S Q R | Y R p.900
. . . . . . g.63697
AAACAAATGGAAGAAATGCAAAAGGCTTTCAATAAAACAATCGTGAAACTTCAGAATACT c.2760
K Q M E E M Q K A F N K T I V K L Q N T p.920
. . | 18 . . . . g.72749
TCAAGAATAGCAGAGGAGCAG | GATCAGCGGCAAACTGAAGCCATCCAGTTGCTACAGGCA c.2820
S R I A E E Q | D Q R Q T E A I Q L L Q A p.940
. . . . . . g.72809
CAGCTGACCAACATGACACAGCTTGTTTCAAATTTATCAGCAACAGTAGCAGAATTGAAA c.2880
Q L T N M T Q L V S N L S A T V A E L K p.960
| 19 . . . . . . g.74764
CGGGAG | GTTTCAGATCGACAAAGCTATCTTGTCATATCTTTGGTTCTTTGTGTTGTCTTG c.2940
R E | V S D R Q S Y L V I S L V L C V V L p.980
. . . . . . g.74824
GGACTGATGCTTTGTATGCAGCGTTGTCGAAATACTTCTCAATTTGATGGAGATTATATT c.3000
G L M L C M Q R C R N T S Q F D G D Y I p.1000
. . . . | 20 . . g.75361
TCAAAACTTCCTAAAAGTAATCAGTATCCAAGCCCTAAAAG | GTGTTTCTCTTCCTATGAT c.3060
S K L P K S N Q Y P S P K R | C F S S Y D p.1020
. . . . . . g.75421
GATATGAATTTGAAAAGAAGAACTTCATTCCCACTCATGAGATCCAAGTCTCTACAGTTA c.3120
D M N L K R R T S F P L M R S K S L Q L p.1040
. | 21 . . . . . g.81440
ACTGGCAAAGAAG | TAGACCCAAATGATTTGTACATTGTAGAACCCCTCAAGTTTTCTCCA c.3180
T G K E V | D P N D L Y I V E P L K F S P p.1060
| 22 . . . . . g.82513
GAAAAGAAG | AAGAAGCGCTGCAAGTACAAAATTGAAAAAATTGAGACCATAAAGCCTGAA c.3240
E K K | K K R C K Y K I E K I E T I K P E p.1080
. . . . . . g.82573
GAACCATTGCACCCCATAGCCAATGGCGACATAAAAGGAAGAAAGCCCTTTACGAACCAG c.3300
E P L H P I A N G D I K G R K P F T N Q p.1100
. . . . . . g.82633
AGAGATTTTTCTAATATGGGAGAAGTTTATCACTCTTCTTATAAAGGTCCTCCATCTGAA c.3360
R D F S N M G E V Y H S S Y K G P P S E p.1120
. . . . . . g.82693
GGAAGCTCAGAAACTTCATCACAGTCAGAAGAGTCCTATTTTTGTGGCATTTCAGCTTGC c.3420
G S S E T S S Q S E E S Y F C G I S A C p.1140
. . . . . . g.82753
ACAAGTCTGTGCAATGGACAGTCTCAAAAGACAAAAACTGAGAAGAGGGCTTTAAAACGA c.3480
T S L C N G Q S Q K T K T E K R A L K R p.1160
. . . . . . g.82813
AGACGATCTAAAGTCCAAGACCAAGGAAAATTGATAAAAACTCTAATACAGACTAAGTCG c.3540
R R S K V Q D Q G K L I K T L I Q T K S p.1180
. . . . . . g.82873
GGATCATTGCCGAGCCTGCATGACATAATCAAAGGAAACAAAGAGATCACCGTGGGAACA c.3600
G S L P S L H D I I K G N K E I T V G T p.1200
. . . g.82906
TTTGGTGTTACAGCAGTCTCGGGACATATCTAA c.3633
F G V T A V S G H I X p.1210
. . . . . . g.82966
aattaattgaacttttcatacagaagacttttttgttgttgttctttgaagaacagtctg c.*60
. . . . . . g.83026
tagtatttgaagggtttgggggagggagaaaatattaatgggaaaggcattcagaaatta c.*120
. . . . . . g.83086
tggtttctacctttttaaaaagtagatgggattgtgtcaatcttggttaatgagctacag c.*180
. . . . . . g.83146
ttttacaaagctgatcacttcctataaggacaatggtagacattttataaagatgttttt c.*240
. . . . . . g.83206
tcacaagattaattactgggacaaaagtaatttggaagcccagttccttaggtgggatag c.*300
. . . . . . g.83266
gaatgaaagcctaaacctcttcctttagctttgttcctatttcttgcaccttcccatatt c.*360
. . . . . . g.83326
tatgtgccttttgtctatttataatgccactggaagaggagggataactttttctgttat c.*420
. . . . . . g.83386
ttgatttcttttataactttgttaggtttttgaagctgcaaacactacaatgctttgagg c.*480
. . . . . . g.83446
gggtctgtgcctgaagctcaggagtgtggatcagacagtctaaagatcctaaaaacttgc c.*540
. . . . . . g.83506
caactggatctttgtttagcaaactcactggaaatgaacacttaatggaatttttaagtc c.*600
. . . . . . g.83566
tgttctgttaggtagatggtgatgctcttgttattttcacttattcagactggattactt c.*660
. . . . . . g.83626
cttacttagttactaactcaatgaggaaaaatccctacaggatctttttttgcaaacaac c.*720
. . . . . . g.83686
tgatatatgcagacaaatttttgacaaattcaccttttaaacacacttaaccatttgtga c.*780
. . . . . . g.83746
aggttttctttagcttacattttaaacatacacaataaacactaatcctccaaactttca c.*840
. . . . . . g.83806
ctgtttttattagtatgaatataaaatttgaaggtttggccaattagtacaagtctcatg c.*900
. . . . . . g.83866
atataatcactgcctgcatacatatgcacagatccagttagtgagtttgtcaagcttaat c.*960
. . . . . . g.83926
ctaattggttaagtctaaagagattattattccttgatgtttgctttgtattggctacaa c.*1020
. . . . . . g.83986
atgtgcagaggtaatacatatgtgatgtcgatgtctctgtctttttttttgtctttaaaa c.*1080
. . . . . . g.84046
aataattggcagcaactgtatttgaataaaatgatttcttagtatgattgtacagtaatg c.*1140
. . . . . . g.84106
aatgaaagtggaacatgtttctttttgaaagggagagaattgaccatttattgttgtgat c.*1200
. . . . . . g.84166
gtttaagttataacttattgagcacttttagtagtgataactgtttttaaacttgcctaa c.*1260
. . . . . . g.84226
tacctttcttgggtattgtttgtaatgtgacttatttaacgccttttttgtttgtttaag c.*1320
. . . . . . g.84286
ttgctgctttaggttaacagcgtgttttagaagatttaaatttctttcctgtctgcacaa c.*1380
. . . . . . g.84346
ttagctattcagagcaagagggcctgattttatagaagccccttgaaaagaggtccagat c.*1440
. . . . . . g.84406
gagagcagagatacagtgagaaattatgtgatctgtgtgttgtgggaagagaattttcaa c.*1500
. . . . . . g.84466
tatgtaactacggagctgtagtgccattagaaactgtgaatttccaaataaatctgaaca c.*1560
. g.84480
cttgtctttattaa c.*1574
(downstream sequence)
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