(used for variant description)
(last modified March 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_013272.3 in the SLCO3A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering SLCO3A1 transcript NM_013272.3.
(upstream sequence)
. . g.5021
gcgatcgcggcggcggcggcg c.-181
. . . . . . g.5081
gcggcgaggagctgtgccttccacctctccagccccggcaggacgggggcggccgccgcg c.-121
. . . . . . g.5141
aacccggggcggggacagcacgcagcctcgaggcgcgcacccccgcccggcagcggcccc c.-61
. . . . . . g.5201
gacacccggggcgagcgggaaagcggcagcggcggcggcggcggcggcggcgggggaagg c.-1
. . . . . . g.5261
ATGCAGGGGAAGAAGCCGGGCGGTTCGTCGGGCGGCGGCCGGAGCGGCGAGCTGCAGGGG c.60
M Q G K K P G G S S G G G R S G E L Q G p.20
. . . . . . g.5321
GACGAGGCGCAGAGGAACAAGAAAAAGAAAAAGAAGGTGTCCTGCTTTTCCAACATCAAG c.120
D E A Q R N K K K K K K V S C F S N I K p.40
. . . . . . g.5381
ATCTTCCTGGTGTCCGAGTGCGCCCTGATGCTGGCGCAGGGCACGGTGGGCGCCTACCTG c.180
I F L V S E C A L M L A Q G T V G A Y L p.60
| 02 . . . . . . g.67345
| GTGAGCGTCCTGACCACCCTGGAGCGTAGGTTCAACCTGCAGAGCGCTGACGTGGGTGTG c.240
| V S V L T T L E R R F N L Q S A D V G V p.80
. . . . . . g.67405
ATCGCTAGCAGCTTCGAGATCGGGAACCTGGCGCTCATCCTCTTCGTGAGCTACTTCGGG c.300
I A S S F E I G N L A L I L F V S Y F G p.100
. . . . . . g.67465
GCACGCGGGCACCGGCCGCGCCTGATCGGCTGCGGCGGCATCGTCATGGCGCTGGGCGCG c.360
A R G H R P R L I G C G G I V M A L G A p.120
. . . . . . g.67525
CTGCTGTCGGCGCTGCCCGAGTTCCTGACCCACCAGTACAAGTACGAGGCGGGCGAGATC c.420
L L S A L P E F L T H Q Y K Y E A G E I p.140
. . . . . . g.67585
CGCTGGGGCGCCGAGGGCCGCGACGTCTGCGCAGCCAACGGCTCGGGCGGCGACGAGGGG c.480
R W G A E G R D V C A A N G S G G D E G p.160
. . . . . . g.67645
CCCGACCCCGACCTCATCTGCCGCAACCGGACGGCTACCAACATGATGTACTTGCTGCTC c.540
P D P D L I C R N R T A T N M M Y L L L p.180
. . . . . . g.67705
ATTGGGGCCCAGGTGCTCCTGGGCATCGGTGCTACCCCTGTGCAGCCCCTGGGCGTCTCC c.600
I G A Q V L L G I G A T P V Q P L G V S p.200
. . . . | 03 . . g.246187
TACATCGACGACCACGTGCGGAGGAAGGACTCCTCGCTCTATATAG | GAATCCTGTTCACG c.660
Y I D D H V R R K D S S L Y I G | I L F T p.220
. . . . . . g.246247
ATGCTGGTATTTGGACCAGCCTGCGGGTTTATCCTGGGCTCTTTCTGTACCAAAATCTAC c.720
M L V F G P A C G F I L G S F C T K I Y p.240
. . | 04 . . . . g.255606
GTGGATGCGGTCTTCATTGACACAA | GTAACCTGGACATCACTCCGGACGACCCCCGCTGG c.780
V D A V F I D T S | N L D I T P D D P R W p.260
. . . . . . g.255666
ATCGGAGCCTGGTGGGGTGGCTTTCTGCTCTGCGGTGCCTTACTCTTCTTCTCTTCCCTC c.840
I G A W W G G F L L C G A L L F F S S L p.280
. . . . . . g.255726
TTGATGTTTGGGTTTCCACAGTCCCTGCCCCCGCACTCAGAGCCCGCCATGGAAAGCGAG c.900
L M F G F P Q S L P P H S E P A M E S E p.300
. . . . . . g.255786
CAGGCCATGCTCTCCGAAAGAGAATACGAGAGACCCAAGCCCAGCAACGGGGTCCTGAGG c.960
Q A M L S E R E Y E R P K P S N G V L R p.320
. . . . | 05 . g.271768
CACCCCCTGGAGCCAGACAGCAGTGCCTCCTGTTTCCAGCAGCTGAGAG | TGATCCCGAAG c.1020
H P L E P D S S A S C F Q Q L R V | I P K p.340
. . . . . . g.271828
GTCACCAAGCACCTGCTCTCAAACCCTGTGTTCACCTGCATCATCCTGGCCGCCTGCATG c.1080
V T K H L L S N P V F T C I I L A A C M p.360
. . . . . . g.271888
GAGATTGCAGTGGTGGCTGGCTTCGCTGCCTTTTTGGGGAAGTACCTGGAGCAGCAGTTT c.1140
E I A V V A G F A A F L G K Y L E Q Q F p.380
. . . | 06 . . . g.277379
AACCTCACCACCTCTTCTGCCAACCAGCTGCTTG | GGATGACTGCGATCCCGTGTGCTTGT c.1200
N L T T S S A N Q L L G | M T A I P C A C p.400
. . . . . . g.277439
CTGGGTATCTTCCTGGGAGGTCTTTTGGTGAAGAAGCTCAGCCTGTCTGCCCTGGGGGCC c.1260
L G I F L G G L L V K K L S L S A L G A p.420
. . . . . . g.277499
ATTCGGATGGCCATGCTCGTCAACCTGGTGTCCACTGCTTGCTACGTCTCCTTCCTCTTC c.1320
I R M A M L V N L V S T A C Y V S F L F p.440
. . . . . | 07 . g.279650
CTGGGCTGCGACACTGGCCCTGTGGCTGGGGTTACTGTTCCCTATGGAAACAG | CACAGCA c.1380
L G C D T G P V A G V T V P Y G N S | T A p.460
. . . . . . g.279710
CCTGGCTCAGCCCTGGACCCCTACTCGCCCTGCAATAATAACTGTGAATGCCAAACCGAT c.1440
P G S A L D P Y S P C N N N C E C Q T D p.480
. . . . . . g.279770
TCCTTCACTCCAGTGTGTGGGGCAGATGGCATCACCTACCTGTCTGCCTGCTTTGCTGGC c.1500
S F T P V C G A D G I T Y L S A C F A G p.500
. | 08 . . . . . g.298324
TGCAACAGCACG | AATCTCACGGGCTGTGCGTGCCTCACCACCGTCCCTGCTGAGAACGCA c.1560
C N S T | N L T G C A C L T T V P A E N A p.520
. . . . . . g.298384
ACCGTGGTTCCTGGAAAATGCCCCAGTCCTGGGTGCCAAGAGGCCTTCCTCACTTTCCTC c.1620
T V V P G K C P S P G C Q E A F L T F L p.540
. . . . . . g.298444
TGTGTGATGTGTATCTGCAGCCTGATCGGTGCCATGGCACAGACACCCTCAGTCATCATC c.1680
C V M C I C S L I G A M A Q T P S V I I p.560
| 09 . . . . . g.302294
CTCATCAG | GACAGTCAGCCCTGAACTCAAGTCTTACGCTTTGGGAGTTCTTTTTCTCCTC c.1740
L I R | T V S P E L K S Y A L G V L F L L p.580
. | 10 . . . . . g.314095
CTTCGTTTGTTGG | GCTTCATCCCTCCACCCCTCATCTTCGGGGCTGGCATCGACTCCACC c.1800
L R L L G | F I P P P L I F G A G I D S T p.600
. . . . . . g.314155
TGCCTGTTCTGGAGCACGTTCTGTGGGGAGCAAGGCGCCTGCGTCCTCTACGACAATGTG c.1860
C L F W S T F C G E Q G A C V L Y D N V p.620
. . . . . . g.314215
GTCTACCGATACCTGTATGTCAGCATCGCCATCGCGCTCAAATCCTTCGCCTTCATCCTG c.1920
V Y R Y L Y V S I A I A L K S F A F I L p.640
. . . . . . g.314275
TACACCACCACGTGGCAGTGCCTGAGGAAAAACTATAAACGCTACATCAAAAACCACGAG c.1980
Y T T T W Q C L R K N Y K R Y I K N H E p.660
. . . . . . g.314335
GGCGGGCTGAGCACCAGTGAGTTCTTTGCCTCTACTCTGACCCTAGACAACCTGGGGAGG c.2040
G G L S T S E F F A S T L T L D N L G R p.680
. . . . . . g.314395
GACCCTGTGCCCGCAAACCAGACACATAGGACAAAGTTTATCTATAACCTGGAAGACCAT c.2100
D P V P A N Q T H R T K F I Y N L E D H p.700
. . . g.314428
GAGTGGTGTGAAAACATGGAGTCCGTTTTATAG c.2133
E W C E N M E S V L X p.710
. . . . . . g.314488
tgactaaaggagggctgaactctgtattagtaatccaagggtcatttttttcttaaaaaa c.*60
. . . . . . g.314548
agaaaaaaaggttccaaaaaaaaccaaaactcagtacacacacacaggcacagatgcaca c.*120
. . . . . . g.314608
cacacgcagacagacacaccgactttgtcctttttctcagcatcagagccagacaggatt c.*180
. . . . . . g.314668
cagaataaggagagaatgacatcgtgcggcagggtcctggaggccacttgcgcggctggg c.*240
. . . . . . g.314728
ccacagagtctactttgaaggcacctcatggttttcaggatgctgacagctgcaagcaac c.*300
. . . . . . g.314788
aggcactgccaaattcagggaacagtggtggccagcttggaggatggacatttctggata c.*360
. . . . . . g.314848
cacatacacatacaaaacagaaaacattttttaaaagaagtttcctaaaataaaaaaaat c.*420
. . . . . . g.314908
taaaaaaaaaaaacccacaagttgaaaacattgccagattaagcactagtgacacacccc c.*480
. . . . . . g.314968
gtgccaccctcttcctccaggtgggggtgggggcgggcgcacaagtcggaggggtggaag c.*540
. . . . . . g.315028
caccactcctctctctgactttcgcaatatgggtcactgtgtagacgactcacccagtct c.*600
. . . . . . g.315088
gcatgtggttcaaggccccagagttctctcagtgatgctaatgggtgatccgtgctggag c.*660
. . . . . . g.315148
tttgtaattggcacctctcaccagctccatttccatgttcaagactgagggcctgagggg c.*720
. . . . . . g.315208
gagccaggtggggggccagcacctcccagtggcgggcatccaccttcccccagccccaca c.*780
. . . . . . g.315268
gagtgacctcaggaagcagtaggcctcgcctggctatgactgacccggctcagagctggt c.*840
. . . . . . g.315328
gagacccaacgcagtccaagtcatttgcttacatttgccaaaaacattttgccattttta c.*900
. . . . . . g.315388
aaagaaaaaaatacaatccatatgaatttcaaactgttgtatgtataatcctctaatact c.*960
. . . . . . g.315448
atttttaactacttctaaaatctgtgttaacccttcaagtcactaacacagttctctagg c.*1020
. . . . . . g.315508
ccggatttattatgctggttgcttttactttttttctccttttttaatgcaccaaaaata c.*1080
. . . . . . g.315568
tgtgatacaagggatgcaattaacctattgtaattttcatcattttatcctcattcgaat c.*1140
. . . . . . g.315628
attctacaaaaacaagaatatacaatgtgttacaagaagaaaaaaaaatgcttcaaaaag c.*1200
. . . . . . g.315688
agagtgtatatgcagcctgcctttaaaagaatcacatttgagacaacaggggataatgtg c.*1260
. . . . . . g.315748
atgaattgcaaatttgccttttagcttccttccccatgattcagtgatcactgtcacggg c.*1320
. . . . . . g.315808
aaacccttttatattcatgcttgacattccaagaggcgttcttttcagcctgtggaggag c.*1380
. . . . . . g.315868
acactcttagatgtgggtttgtgtgtatgggtgcaacacttccggggataggaaagaaga c.*1440
. . . . . . g.315928
acagttccctaacacaagctgttaagaagtctgtagcatctctgataacgaatagaccca c.*1500
. . . . . . g.315988
caagctcctggaagctgtcgtgtgtccaatgcgtgaaaatgtctgtgacattttcagtgt c.*1560
. . . . . . g.316048
tagtcttgaactaaggcccttgtctgtgtgttttgaaggtgggtgaacctcagagaatga c.*1620
. . . . . . g.316108
acctgttatgatttggggtaagaatcacgttggaaaacctctcgcaaccagcacactagg c.*1680
. . . . . . g.316168
ccttctacggccatttctgtaaggggacagagcttaggtaaaggcacacactcatacaca c.*1740
. . . . . . g.316228
cacaacaaagggccctgctaacttactcctcatgctgcttcagtgacctttgttcatgtc c.*1800
. . . . . . g.316288
acattcctggcgctggaaaaaaaactcaaaggttgattggtttgctttttcaccttggac c.*1860
. . . . . . g.316348
acatttgcattttacccacaaggcaaacaaaagaatcaggaagtaaaaaatggttgggag c.*1920
. . . . . . g.316408
tgggacaggtatggtaccgaatttttaatgaacattgtaaatgaagaggcttgaatgaca c.*1980
. . . . . . g.316468
gcccaaatctagagaaggcactcagcaagaccaaccaaaagaaaagctgtgtcgtggtat c.*2040
. . . . . . g.316528
ggggccaccgtgatcagctacctggggcaggatgcttctgagacaggcctttcaactgct c.*2100
. . . . . . g.316588
tagtgttagtatgtccttgcttatgaaaatggggacactcatcagtacgttaactactaa c.*2160
. . . . . . g.316648
aggggagatggttctccaaccacttcataaaatatgtatgttctgttgttcctaaggctt c.*2220
. . . . . . g.316708
tgataatatcctgtacagattttggtttagttttgcaaatatattgctaataggtcactc c.*2280
. . . . . . g.316768
ttatagattattgcttggcccttcaaactcagtacacacacactgaggccctttgaccta c.*2340
. . . . . . g.316828
gtgttttatggaactatttgctttgagagaaaaaaaaaagaaagttttttaaactctttg c.*2400
. . . . . . g.316888
cattttggattttttttcctaagattttaggatgaatgtgaaaaagatgttagaataaca c.*2460
. . . . . . g.316948
ggaagacaactccagggctgagttttatcagcaattgggtataaatttaaagaccgctgt c.*2520
. . . . . . g.317008
tgcaggatggctctgaattctgttgtgtcgtcttttaaaattttaattattctcatatag c.*2580
. . . . . . g.317068
taccgaacagaaaactcagtctagttttaatttgccttttgtgctctaaagaagcattgt c.*2640
. . . . . . g.317128
acatacaacactagatccagcccctcgattatctgtttggtttcaagtgaatgaaaagat c.*2700
. . . . . . g.317188
ttcctggtaagatcattggatttacagaatacaaaaatgtacgggatggaataaacctag c.*2760
. g.317200
aaagtgaatgct c.*2772
(downstream sequence)
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