(used for variant description)
(last modified October 11, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_018400.3 in the SCN3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering SCN3B transcript NM_018400.3.
(upstream sequence)
. . g.5026
tgtcagggctgacagcacacacggcc c.-781
. . . . . . g.5086
tgggggcctagagaagggttgctgatcacctgccacccagggtcggggccccgcaccatc c.-721
. . . . . . g.5146
cgggggcgagctcccgggaaggggctccgcctctacacccaccccccaacctctgacatc c.-661
. . . . . . g.5206
gccggccgaacgggagctgccgcttccttcccggccccgctgcacctccccagggagccg c.-601
. . . . . . g.5266
agggcgggcgtggacgggaccgacgtggaacgcattctgtagcccagacgggcggccccg c.-541
. . . . . . g.5326
gcggcttcgggagtggggtcacgcccagctggagaagcagttagggcggacgaagcagga c.-481
. . . . . . g.5386
gccgcggggctgggaggattccagtcggaacgcaaccgatcctggggaggcgagaggtga c.-421
. . . . . . g.5446
atcaacctggacccttccacagcctggctgctaggccagcagtgcgactcccttccgagc c.-361
. . . . . . g.5506
tgagcttaccctgggcgcaaacgagcgaggcaggggcgcgagtggaagctggagttccgg c.-301
. . . . . . g.5566
ggtgggcggggaggcgactgtccgtggtgctgagcgccggcgagagcgggcgcggagcgg c.-241
. . . . . . g.5626
ctgatcggctccctcgaactggggaggtccagtggggtcgcttagggcccaaagccccca c.-181
. . . . . . g.5686
cccggctccaaaagctcccagggcctccccaggcaccggtgctcggcccttccttcggtc c.-121
. . . . . . g.5746
agaaagtcgccccctgggggcagttcgtcccaaagggtttcctcgaaagaatctgagagg c.-61
. . . . . . g.5806
gcgcagtccttgaccgagggaatctctctgtgtagccttggaagccgccagccccagaag c.-1
. . . . . | 02 . g.13862
ATGCCTGCCTTCAATAGATTGTTTCCCCTGGCTTCTCTCGTGCTTATCTACTGGG | TCAGT c.60
M P A F N R L F P L A S L V L I Y W V | S p.20
. . . . . . g.13922
GTCTGCTTCCCTGTGTGTGTGGAAGTGCCCTCGGAGACGGAGGCCGTGCAGGGCAACCCC c.120
V C F P V C V E V P S E T E A V Q G N P p.40
. . . . . . g.13982
ATGAAGCTGCGCTGCATCTCCTGCATGAAGAGAGAGGAGGTGGAGGCCACCACGGTGGTG c.180
M K L R C I S C M K R E E V E A T T V V p.60
. . . | 03 . . g.16957
GAATGGTTCTACAGGCCCGAGGGCGGTAAAGATTTCCTT | ATTTACGAGTATCGGAATGGC c.240
E W F Y R P E G G K D F L | I Y E Y R N G p.80
. . . . . . g.17017
CACCAGGAGGTGGAGAGCCCCTTTCAGGGGCGCCTGCAGTGGAATGGCAGCAAGGACCTG c.300
H Q E V E S P F Q G R L Q W N G S K D L p.100
. . . . . . g.17077
CAGGACGTGTCCATCACTGTGCTCAACGTCACTCTGAACGACTCTGGCCTCTACACCTGC c.360
Q D V S I T V L N V T L N D S G L Y T C p.120
. . . . . . g.17137
AATGTGTCCCGGGAGTTTGAGTTTGAGGCGCATCGGCCCTTTGTGAAGACGACGCGGCTG c.420
N V S R E F E F E A H R P F V K T T R L p.140
. . | 04 . . . . g.21318
ATCCCCCTAAGAGTCACCGAGGAGG | CTGGAGAGGACTTCACCTCTGTGGTCTCAGAAATC c.480
I P L R V T E E A | G E D F T S V V S E I p.160
. . . . . . g.21378
ATGATGTACATCCTTCTGGTCTTCCTCACCTTGTGGCTGCTCATCGAGATGATATATTGC c.540
M M Y I L L V F L T L W L L I E M I Y C p.180
. . . . | 05 . . g.25417
TACAGAAAGGTCTCAAAAGCCGAAGAGGCAGCCCAAGAAAACGC | GTCTGACTACCTTGCC c.600
Y R K V S K A E E A A Q E N A | S D Y L A p.200
. . . . g.25465
ATCCCATCTGAGAACAAGGAGAACTCTGCGGTACCAGTGGAGGAATAG c.648
I P S E N K E N S A V P V E E X p.215
. . | 06 . . . . g.25869
aacaggagcagtgtgacatgag | gtggcctgaacacctgagggactggacatcccatgttc c.*60
. . . . . . g.25929
agcaatgtcaatggcatcaggagggcgccccaagggccccatcgcttcccttcatgcatc c.*120
. . . . . . g.25989
cattgttctgttcattcattcatccatacatccacctgcctctgagctttcacctctgac c.*180
. . . . . . g.26049
tccctaactccatcagacctctacgcaccataagactctgccagaactgagaagccaaca c.*240
. . . . . . g.26109
tttctacatagactcaacctcaccctctcctagttttccaacaagacactccaaagccaa c.*300
. . . . . . g.26169
ctggatttctcccctgtgctccaaatgactttgtacaagtgctggagttagcacctccct c.*360
. . . . . . g.26229
ctgcccttaactggctggaactggttcattctccattactgcaagagaatggaagtctta c.*420
. . . . . . g.26289
atagaaggaagcaggagtgattagttcgggttaaagcaaaagtgtgtcatgaacttggat c.*480
. . . . . . g.26349
tccctgaagtcagttttgtcaggttcatggcccactttgctacagcatcagagtgaagca c.*540
. . . . . . g.26409
cgcctgtctaggttctccagtgacagaaagatcctgaagcatggactaacatgctctctg c.*600
. . . . . . g.26469
gagcttagtactccagagctagatcctgatgggtctctaaggttccctccaagaagacaa c.*660
. . . . . . g.26529
ggacaggagacttgggaaggaccaatggtaatttaagtggctcttaaaaagtcatgcaac c.*720
. . . . . . g.26589
atgtttctggacacgttcctgatcctattgcgataatgtatgtgtgccctccctgtgggc c.*780
. . . . . . g.26649
acaccacctgggcattaggactgaaattcctgagttcttcctctcaaaatttctgtgcac c.*840
. . . . . . g.26709
cagtattattcctcattttacatacaggaggcaactaagactcatacagggctcaactga c.*900
. . . . . . g.26769
ataagaggcttaagaggataaactggagcagaaataagccttaggtgctgcccagtttac c.*960
. . . . . . g.26829
acttcctgggatggatgtttttgtttgttttgttttttgttttttttgtttgagatggag c.*1020
. . . . . . g.26889
tctcactctgtcacctaggctagagtgcagtggtgtgatctcggctcactgcaacctctg c.*1080
. . . . . . g.26949
cctcttgggttcaagcaattctcatgcctcggcctctccagtagctgggattacaggtgt c.*1140
. . . . . . g.27009
gcaccaccacgcctggctaaattttgtatttttagtacagacagggtttgactatgttgg c.*1200
. . . . . . g.27069
ccaggctagtcttgaactcctgacctcaaatgacccacccacctcagcctcccaaagtgc c.*1260
. . . . . . g.27129
tgagattacaggcgtgaggcactgcgcccggtggataactttgtttctgaaaagactgac c.*1320
. . . . . . g.27189
attgaacttgtctatggcaatgcttctttcacaagcacggactgggctgaggtcaactct c.*1380
. . . . . . g.27249
gatagattcagatgactagaaattggccaaaaaagcagggagaagaacatgaggtagact c.*1440
. . . . . . g.27309
taaagaacttcctttatgtaaagatctgtgactctgaaatatcctccaaaaggagagtgc c.*1500
. . . . . . g.27369
atctgagactgatatttaaactaagaaaaatgtttagtctgagatggatcataagtaaat c.*1560
. . . . . . g.27429
gagcagtgtgagaggggagggatgggtaggtgctttccaaatacttcgcctatgaatgca c.*1620
. . . . . . g.27489
taattttcagatttttttcccctagattttgagggagcagagaaactggaaaaaacttta c.*1680
. . . . . . g.27549
gtcaatatctcgtgtttcattttaattaagtgacaggtccaagtgtgacatccttcagca c.*1740
. . . . . . g.27609
cccagggacaagagaggggaaagatgctttatggaatgtaagaagatgaaggtgactggg c.*1800
. . . . . . g.27669
attcagcgagagagaggtccctcagacctgggacctccctttatagggaaagaccatatt c.*1860
. . . . . . g.27729
ccataggtttagggctttaccttaaaagctcatttttttcattcttccatccctaggaaa c.*1920
. . . . . . g.27789
gtacttaaaaccagacttttaaatttttatttatttattattatttttttgagacagatt c.*1980
. . . . . . g.27849
ctcactctgtctcccaggctagagtgcagtggtgcaatctcagctcactgcagcctcaac c.*2040
. . . . . . g.27909
tgccccaggtttaagcaatcctcccacctcagcccccaggtaactgggactacaggcatg c.*2100
. . . . . . g.27969
caccaccatgcctggctaatttttgtattttatgtagagacaggggtcttgccatgtcgc c.*2160
. . . . . . g.28029
ccaggctgatcttgaactcctgggctcaagcaatctgccagcctcagcctctcaaagtgc c.*2220
. . . . . . g.28089
tgggattacaggcctgagcaactgtgcctggcccaaaaccagaccgttaacacattaaag c.*2280
. . . . . . g.28149
agtctgattttgttgaagaaaatatttgcaataaattcaagactcttcttattggtaatt c.*2340
. . . . . . g.28209
ttccacacaatccctctgaaataagggagaggatatagacctttttaactttatagttag c.*2400
. . . . . . g.28269
aaaaattggcctcagtgtgaaatttttccagtcccatagctcatggatgccaccagcttg c.*2460
. . . . . . g.28329
cggtagtagcaagatgcttactaccacaccgttttcctcggtggcccaatagctcgtgta c.*2520
. . . . . . g.28389
tctaagttgaacccggcagtatgcatgattgcctttttctcttctttttaaaaaaaccca c.*2580
. . . . . . g.28449
actcagatgctgcttgcgtggcttttaatgaagctgaatggtatctatcacttatttatc c.*2640
. . . . . . g.28509
cttgacaggttatcttccccactcttcctttttctaacttctccattcttctcattcttg c.*2700
. . . . . . g.28569
acactttcattagaactatatggtttacgaagtattttcacttaactattttatttcttc c.*2760
. . . . . . g.28629
tctataactggtcctgtgaggtcacattacaaaagaagaaactgagggtctctgaggtta c.*2820
. . . . . . g.28689
agtagctttactaaattataaggaaacctagctggtaggtagacagcaagaatccaggtc c.*2880
. . . . . . g.28749
ttctgactcctctttcagttctctttccacttagaccatagctgcttccttttcttattt c.*2940
. . . . . . g.28809
tttagcttccatctaaccattgcctatcttgcctgtcctaatgttctccatcttctctca c.*3000
. . . . . . g.28869
cccctaatcccactcactgcttctctaccactttgctttttggtggatgctagcaatgtg c.*3060
. . . . . . g.28929
ctttgagagtcagtcctattttggttctctttctagttggtttgtacatcattatttctc c.*3120
. . . . . . g.28989
ctgaattgcaattaaactccttcctgggagatttgataatgactgtaaatcaataaggta c.*3180
. . . . . . g.29049
ctgtgatcaccagcctacttccaatctccacccacctccctgtctcttcccataatccta c.*3240
. . . . . . g.29109
cgaaagacccagactagatgtctgtttctctggaagctttatctggcatgatgttgctta c.*3300
. . . . . . g.29169
ttaaagggcttagaagagttctcaagggctattaatatcactttagaaaccccatctgtt c.*3360
. . . . . . g.29229
gtcttggtgctggatatttcccatgtctgatcctcaataacacaattcactaaaggccaa c.*3420
. . . . . . g.29289
gcttggctcaatctgattttcccattcttactacttcacagccatgaatgtgattgctca c.*3480
. . . . . . g.29349
atccagttggccctgagagcaccttgccctgctgaccttcactgtcacctcggtcttgaa c.*3540
. . . . . . g.29409
tcagagccccaacccaaacactccctgcctgtccctaccccagcctttattctcaccact c.*3600
. . . . . . g.29469
tgtttaacggcatgaccttttagtttctccattcccagacacccacacacccagacttcc c.*3660
. . . . . . g.29529
ttctgagttgcaggtttctccttagatgtccaactagaaatattactaggaaagttactt c.*3720
. . . . . . g.29589
ttcaaagcaggaatgtgctgggaagtaggagacagcaactccctcctctctccccaaaat c.*3780
. . . . . . g.29649
tattggatcaaaaaagaaattccatccatctcagaatctgtgagtcctcctcacataaat c.*3840
. . . . . . g.29709
ctgagggaaaaggctgtgtcactgcatctttgcaggaagaaagagaagcaagagctagac c.*3900
. . . . . . g.29769
acacttcagaatatatcttagtttcccctttcccagtttaacatgaaaatgaaaaaagaa c.*3960
. . . . . . g.29829
aaaaatgaaaaacaaaaacaaaagaagccttcctctcacctcattttgtaaatgaaaaat c.*4020
. . . . . . g.29889
ccctaattcagtgaattcacctagtcactgcaaatgtatctgaatagtgcttggtgtgct c.*4080
. . . . . . g.29949
tgccagtctgatcatccactcattctactaacatctttttgcacccactctgtcaagctc c.*4140
. . . . . . g.30009
tagcctagacctttagtgtgccatgcagtcacaggtctgaaaagcagcatcatccaaacc c.*4200
. . . . . . g.30069
ttacttaatctctaaaatctcagctggtggacagctcatgattagttcagcccacttcct c.*4260
. . . . . . g.30129
cccccttagttgagtttgcagcaggacgcaggagataagcacttccaagcaagtctgatt c.*4320
. . . . . . g.30189
tatatatcaaactcggtctccatcccaggccagctgaccctcagagccagcaatgctctg c.*4380
. . . . . . g.30249
tgcttcctccctgcgtcacggcttggcaagagctgcctctgctgagcagtgtgtgtgatg c.*4440
. . . . . . g.30309
gagacggaggccgctgaaggccgagtgcttgcaggcttgtgaactgccatcgaacacaat c.*4500
. . . . . . g.30369
ccaaactctggaaatgttcctgaccacctaagccctcaacaacgtaatgcctgtatgtgc c.*4560
. . . . . g.30421
tgtttttcagtaaactccttgttcatgtcaataaagtatccctgaaaaccac c.*4612
(downstream sequence)
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