(used for variant description)
(last modified June 20, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_021147.3 in the CCNO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering CCNO transcript NM_021147.3.
(upstream sequence)
. . . g.5037
agtgagaggccgggggtgtggtagagagaaggagccg c.-121
. . . . . . g.5097
gccgggtacttaggaccgcgccagcctctgagcccggcctccttcgcactttcgagtgcg c.-61
. . . . . . g.5157
cgtttgctgcccgccgcagcccgggcgttgaaggtagtaaagcggccacccggccgcatc c.-1
. . . . . . g.5217
ATGGTGACCCCCTGTCCCACCAGCCCCTCGAGCCCCGCCGCCCGAGCGGGGAGGCGGGAC c.60
M V T P C P T S P S S P A A R A G R R D p.20
. . . . . . g.5277
AACGACCAGAACCTTCGCGCCCCGGTGAAGAAGAGCAGGCGTCCGCGCCTCCGGAGGAAG c.120
N D Q N L R A P V K K S R R P R L R R K p.40
. . . . . . g.5337
CAGCCGCTGCATCCCCTGAACCCGTGCCCGCTCCCGGGAGACTCCGGCATTTGCGACCTG c.180
Q P L H P L N P C P L P G D S G I C D L p.60
. . . . . . g.5397
TTCGAGTCCCCCAGCTCCGGCTCAGACGGCGCAGAGAGCCCCTCTGCGGCGCGGGGTGGT c.240
F E S P S S G S D G A E S P S A A R G G p.80
. . . . . . g.5457
AGCCCCCTGCCCGGCCCGGCCCAGCCCGTGGCGCAGCTAGATCTACAGACCTTCCGCGAC c.300
S P L P G P A Q P V A Q L D L Q T F R D p.100
. . . . . . g.5517
TACGGCCAGAGCTGCTACGCCTTCCGCAAGGCGCAGGAGAGCCACTTCCACCCGCGGGAG c.360
Y G Q S C Y A F R K A Q E S H F H P R E p.120
. . | 02 . . . . g.6173
GCGCTGGCACGGCAGCCACAA | GTGACGGCGGAATCCCGCTGTAAGCTGCTCAGCTGGCTG c.420
A L A R Q P Q | V T A E S R C K L L S W L p.140
. . . . . . g.6233
ATCCCGGTGCACCGCCAATTCGGCCTCTCCTTCGAGTCGCTGTGCCTGACGGTGAACACT c.480
I P V H R Q F G L S F E S L C L T V N T p.160
. . . . . . g.6293
CTGGACCGCTTCCTCACCACCACGCCGGTGGCTGCAGACTGCTTCCAGCTGCTTGGGGTC c.540
L D R F L T T T P V A A D C F Q L L G V p.180
. . | 03. . . . g.6853
ACCTCCTTGCTCATCGCTTGCAAACAG | GTGGAGGTGCACCCGCCGCGCGTGAAGCAGCTT c.600
T S L L I A C K Q | V E V H P P R V K Q L p.200
. . . . . . g.6913
CTGGCCCTCTGCTGCGGCGCCTTCTCCCGGCAGCAGCTCTGCAACCTCGAGTGCATCGTG c.660
L A L C C G A F S R Q Q L C N L E C I V p.220
. . . . . . g.6973
CTGCACAAGCTGCACTTCACCCTGGGTGCGCCCACCATTAGCTTCTTCCTGGAGCATTTC c.720
L H K L H F T L G A P T I S F F L E H F p.240
. . . . . . g.7033
ACGCACGCTCGCGTGGAGGCGGGGCAGGCTGAGGCCTCCGAAGCTCTGGAAGCGCAAGCC c.780
T H A R V E A G Q A E A S E A L E A Q A p.260
. . . . . . g.7093
CTGGCGCGGGGGGTGGCAGAGCTGAGTCTGGCCGACTATGCCTTCACCAGCTACTCCCCT c.840
L A R G V A E L S L A D Y A F T S Y S P p.280
. . . . . . g.7153
TCCCTCCTGGCGATCTGCTGCCTGGCGCTGGCGGACCGCATGCTGCGGGTCTCGCGGCCC c.900
S L L A I C C L A L A D R M L R V S R P p.300
. . . . . . g.7213
GTGGACTTGCGACTGGGAGACCACCCGGAGGCGGCGCTGGAGGACTGTATGGGCAAGTTG c.960
V D L R L G D H P E A A L E D C M G K L p.320
. . . . . . g.7273
CAGCTGCTGGTGGCCATAAACAGTACTTCCTTGACTCACATGCTGCCCGTTCAGATCTGC c.1020
Q L L V A I N S T S L T H M L P V Q I C p.340
. . . g.7306
GAGAAGTGCAGCCTGCCCCCGAGCTCGAAATAA c.1053
E K C S L P P S S K X p.350
. . . . . . g.7366
aacagatccttcgtttccttttagtccctggcccggctgctggacctctcccgtagcctc c.*60
. . . . . . g.7426
agaagagtgcagtactggtccacagagaaggcttcaggacctgcttggtcagctgcaggt c.*120
. . . . . . g.7486
tgtaaatagtgtacgatactagcatctggtattttatttattttgcagcgagcacatgag c.*180
. . . . g.7529
gaagctgagtctttcaccaataaacagttgtggtttgtctaaa c.*223
(downstream sequence)
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