(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006517.4 in the SLC16A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering SLC16A2 transcript NM_006517.4.
(upstream sequence)
. . g.5025
ggccagctggggcgcggagcctgga c.-121
. . . . . . g.5085
ggaggaggcagcggcagcggcagcagcagccctccgagcagcagcagctgcagcagcaga c.-61
. . . . . . g.5145
aacaagtaccagccacaaagcggctcctctggcccaagcagccacagtccccccgccgcg c.-1
. . . . . . g.5205
ATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAG c.60
M A L Q S Q A S E E A K G P W Q E A D Q p.20
. . . . . . g.5265
GAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAG c.120
E Q Q E P V G S P E P E S E P E P E P E p.40
. . . . . . g.5325
CCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGAC c.180
P E P V P V P P P E P Q P E P Q P L P D p.60
. . . . . . g.5385
CCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACG c.240
P A P L P E L E F E S E R V H E P E P T p.80
. . . . . . g.5445
CCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGC c.300
P T V E T R G T A R G F Q P P E G G F G p.100
. . . . . . g.5505
TGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCT c.360
W V V V F A A T W C N G S I F G I H N S p.120
. . . . . . g.5565
GTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAG c.420
V G I L Y S M L L E E E K E K N R Q V E p.140
. | 02 . . . . . g.104547
TTCCAAGCAG | CATGGGTCGGAGCCCTCGCGATGGGTATGATCTTCTTCTGTTCTCCCATT c.480
F Q A A | W V G A L A M G M I F F C S P I p.160
. . . . . . g.104607
GTGAGTATATTCACTGACCGTTTGGGCTGCCGAATCACAGCAACCGCGGGGGCTGCCGTT c.540
V S I F T D R L G C R I T A T A G A A V p.180
. . . | 03 . . . g.107891
GCTTTCATTGGCCTCCATACCAGCTCCTTCACCAG | CTCCCTAAGCCTGCGCTACTTCACC c.600
A F I G L H T S S F T S | S L S L R Y F T p.200
. . . . . . g.107951
TACGGGATTCTCTTTGGTTGTGGCTGTTCCTTCGCCTTTCAGCCATCCCTCGTCATCCTG c.660
Y G I L F G C G C S F A F Q P S L V I L p.220
. . . . . . g.108011
GGCCACTACTTTCAACGCCGCCTGGGTCTGGCCAATGGTGTGGTGTCTGCTGGGAGTAGC c.720
G H Y F Q R R L G L A N G V V S A G S S p.240
. . . . . . g.108071
ATTTTCTCCATGTCCTTCCCCTTCCTCATCAGAATGCTGGGGGATAAGATCAAGCTGGCC c.780
I F S M S F P F L I R M L G D K I K L A p.260
. . . . . . g.108131
CAAACCTTCCAGGTGCTGAGTACCTTCATGTTTGTTCTTATGCTGCTTTCACTCACCTAC c.840
Q T F Q V L S T F M F V L M L L S L T Y p.280
. . . . . . g.108191
CGGCCCCTCCTGCCCAGCTCCCAGGACACCCCAAGCAAGAGAGGTGTCCGCACCCTGCAC c.900
R P L L P S S Q D T P S K R G V R T L H p.300
. . . . . . g.108251
CAGCGCTTTCTGGCTCAGCTCAGGAAGTACTTCAACATGCGAGTGTTCCGCCAACGCACT c.960
Q R F L A Q L R K Y F N M R V F R Q R T p.320
. . . . . . g.108311
TACCGCATCTGGGCCTTCGGAATTGCTGCTGCTGCCCTTGGCTACTTTGTTCCCTATGTA c.1020
Y R I W A F G I A A A A L G Y F V P Y V p.340
| 04 . . . . . . g.109311
CACCTG | ATGAAGTATGTGGAGGAGGAGTTCTCAGAAATCAAGGAGACCTGGGTGCTCTTG c.1080
H L | M K Y V E E E F S E I K E T W V L L p.360
. . . . . . g.109371
GTGTGTATTGGGGCTACCTCAGGCCTTGGGCGTCTTGTGTCAGGCCACATCAGTGACTCC c.1140
V C I G A T S G L G R L V S G H I S D S p.380
. . . | 05 . . . g.112750
ATCCCTGGACTTAAGAAGATCTACTTGCAG | GTCCTTTCCTTCCTGCTCCTGGGCCTGATG c.1200
I P G L K K I Y L Q | V L S F L L L G L M p.400
. . . . . . g.112810
TCCATGATGATTCCCCTGTGCCGGGACTTCGGGGGCCTTATCGTCGTCTGTCTTTTCCTG c.1260
S M M I P L C R D F G G L I V V C L F L p.420
. . . . . . g.112870
GGCCTTTGCGATGGCTTCTTCATCACCATCATGGCCCCCATTGCATTTGAGCTGGTGGGC c.1320
G L C D G F F I T I M A P I A F E L V G p.440
. . . . . . g.112930
CCAATGCAGGCCTCACAGGCCATTGGCTACCTCCTGGGCATGATGGCCCTGCCAATGATT c.1380
P M Q A S Q A I G Y L L G M M A L P M I p.460
. | 06 . . . . g.114881
GCTGGGCCCCCCATTGCAG | GCCTACTCCGCAACTGTTTTGGGGACTACCATGTGGCCTTC c.1440
A G P P I A G | L L R N C F G D Y H V A F p.480
. . . . . . g.114941
TACTTTGCCGGTGTGCCCCCCATCATCGGGGCTGTAATCCTCTTCTTCGTCCCTCTGATG c.1500
Y F A G V P P I I G A V I L F F V P L M p.500
. . . . . . g.115001
CATCAAAGGATGTTCAAGAAAGAGCAGAGAGATTCCAGCAAGGATAAGATGTTGGCCCCT c.1560
H Q R M F K K E Q R D S S K D K M L A P p.520
. . . . . . g.115061
GACCCAGACCCCAATGGGGAGCTACTGCCGGGCTCCCCCAACCCTGAGGAACCAATCTAA c.1620
D P D P N G E L L P G S P N P E E P I X p.539
. . . . . . g.115121
tgcctttcttgccattgtgtgccctttcccagctcttccccttcatcccaccctgctcag c.*60
. . . . . . g.115181
catttacatttttgccaccagcacacttgttcccagacctgcgcacacagcatttcagcc c.*120
. . . . . . g.115241
acctgacaatctccttggagtcaaagctccaggtgttccaaactcattaactaaattctc c.*180
. . . . . . g.115301
cccagaatgcttttaaattttccagggcctttctcctcccaggatctgggaaagcttggg c.*240
. . . . . . g.115361
aaccacccctggcctttggaacctctccatatactttctaagctctgggggaggaggagg c.*300
. . . . . . g.115421
atgggacctcctggacccagcttgttagtcacccactataatcaactgccaaaggtgcta c.*360
. . . . . . g.115481
ctgtgtccccaggagcctaatagggtaggcccaaatctctgtttgctgaggaggtcattg c.*420
. . . . . . g.115541
ccatccatatttgggagccactgggtggaggggcagggaggcaaaatgagacaagtagcc c.*480
. . . . . . g.115601
ttggttagtcttagagttgctgatgactgtggcttcccaagaactgggtacaagcagtgc c.*540
. . . . . . g.115661
ccttattgtatggttggttaacagtctgctcccctcttcccttccttctttttttcctct c.*600
. . . . . . g.115721
actgacttctctccatactctttcccctctatttctttgtatgactgtcatagacacatg c.*660
. . . . . . g.115781
ggtgcttgaagaaaggagggacccggaacttgggccaatcagcctcaccttgtcccagtc c.*720
. . . . . . g.115841
cactcctaacactagcatcagtcccactcatctcaggctgagccacatctcactttttcg c.*780
. . . . . . g.115901
ctcaagctatataatcctagactggaagagtagaatatcatatagggaagaaaccttaaa c.*840
. . . . . . g.115961
caccacagtgttccatgttccagtcactgatttttacaaatcttacagtccaaggcatta c.*900
. . . . . . g.116021
acctcaaggccctcccagcaccccattcttgtatacacatggcaaaatgtgaagaaactc c.*960
. . . . . . g.116081
ctttcatctcagcaggtagaggaggactgatgacacgagctgccatggcgggaggagggg c.*1020
. . . . . . g.116141
cagtagttattgatatggtgagccccatctctcagttttcatgacaggtctatatttcta c.*1080
. . . . . . g.116201
cctgggccaggccaggaaagagactatttaagaaaaaaaaaatcaattcctagcctggat c.*1140
. . . . . . g.116261
cccaaaaaggtacaggcagcagttgcacatagggttggaaaatttcttttgggaagggga c.*1200
. . . . . . g.116321
agccatcccagcctttaccacccaatgtgtctcccatgctgggcatcctaggccactttg c.*1260
. . . . . . g.116381
cttagagggcattaaaggtgccatgaaaggtagactctgaaccactttgatccctctgaa c.*1320
. . . . . . g.116441
gtaggtgactgatgcctccttatgcccaggctctggcaacagtcttactgaagaacattc c.*1380
. . . . . . g.116501
ccagtgcccctggctaggggcagagggcactgccaggctgtgttcagttagcacagctca c.*1440
. . . . . . g.116561
cctcattaggagctcagcctctctcctcactctgcctctttgtgtctctttttctcctct c.*1500
. . . . . . g.116621
ctgagcctttgtctattgtgttcctgtcacccaccctttcatcatctttttgccaggcat c.*1560
. . . . . . g.116681
tcctggctgtcacttggagccaacagtaacttgccaccttaaggcagggtcatccccggg c.*1620
. . . . . . g.116741
ccaggaggatgaggttgtcctgaggggctccaaagaagacaatagttcccactcatgatt c.*1680
. . . . . . g.116801
ttccgttacaaacaggcagctggggcatggttggcctccaatgatttcattcaaggccaa c.*1740
. . . . . . g.116861
agtcctgagccccctccgctggtcccagtccagctcttatcaactccccaaaggaaaacc c.*1800
. . . . . . g.116921
cactggttcttagctctgtgggtaggaaggggccctagaaagggcctagttactatcctg c.*1860
. . . . . . g.116981
tcagttctaacagtagtggaacaggagaatctgggccctaggagccctgtaactcccagg c.*1920
. . . . . . g.117041
agagaccactgaaaatactggagcaacaatgcccctgcttccatttctccccacctcact c.*1980
. . . . . . g.117101
ctcaccaagtcaccagagggtggttctgtaggacctcttttgttgcttaagatgcagatg c.*2040
. . . . . . g.117161
gctcttaagaatcaggcagtcgcccacttctctccagatgaagggaagacattcataggt c.*2100
. . . . . . g.117221
cccaaatctgcccattcagatgtcacataatatggtgggatatcaatttacttcttccac c.*2160
. . . . . . g.117281
acatgtggttgtgcacatgtgagcttgtgtgcttttggagagaatgttgattggcaaaag c.*2220
. . . . . . g.117341
cagcacagtattaatatttagagtaggatgcagcctcttatgcaccacagttaaatctag c.*2280
. . . . . . g.117401
aacgaacaaaatttcagagctcaagacatgggacatttaaatcctcaaggagtttggaac c.*2340
. . . g.117437
aaaataaacagatctaaaaatttggtttgggtatgt c.*2376
(downstream sequence)
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