(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IL12B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering IL12B transcript NM_002187.2.
(upstream sequence)
. g.2914
ctaactgcaggg c.-121
. . . . . . g.2974
cacagatgcccattcgctccaagatgagctatagtagcggtcctgggcccgcacgctaat c.-61
. . . . . . g.3034
gctggcatttttgcggcagatgaccgtggctgaggtcttgtccgtgaagactctatcttt c.-1
| 02 . . . . . . g.5013
| CTTTTCTCTCTTGCTCTTGCCCTGGACCTGAACGCAGAATGTCAGGGAGAAGTAGGAATG c.60
| L F S L A L A L D L N A E C Q G E V G M p.20
. . . . . . g.5073
TGGAGTACTCCAGGTGTCAGGGTACTCCCAGCTGACCTCCACCTGCCGAGAATTCTTTAA c.120
W S T P G V R V L P A D L H L P R I L X p.39
. . . | 03 . . g.6545
tggcttcagctgcaagttcttgggtgggtcaggtttga | tgatgtccctgatgaagaagct c.*60
. . . . . . g.6605
gctggtgtagttttcatacttgagcttgtgaacggcatccaccatgacctcaatgggcag c.*120
. . . . . . g.6665
actctcctcagcagctgggcaggcactgtcctcctggcactccactgagtactcatactc c.*180
. . . . . . g.6725
cttgttgtcccctctgactctctctgcagagagtgtagcagctccgcacgtcaccccttg c.*240
. | 04 . . . . . g.8658
ggggtcagaagag | cctctgctgcttttgacactgaatgtcaaatcagtactgattgtcgt c.*300
. . . . . . g.8718
cagccaccagcaggtgaaacgtccagaataattcttggcctcgcatcttagaaaggtctt c.*360
. | 05 . . . . . g.9320
atttttgggtt | ctttctggtcctttaaaatatcagtggaccaaattccatcttccttttt c.*420
. . . . . . g.9380
gtgaagcagcaggagcgaatggcttagaacctcgcctcctttgtgacaggtgtactggcc c.*480
. . . . . . g.9440
agcatctccaaactctttgacttggatggtcagggttttgccagagcctaagacctcact c.*540
. . . . . . g.9500
gctctggtccaaggtccaggtgataccatcttcttcaggggtgtcacaggtgaggaccac c.*600
. . . . | 06. . g.12925
catttctccaggggcatccggataccaatccaattctacgacataaa | catctttcttcag c.*660
. . . . . . g.12985
ttcccatatggccacgaggggagatgccagaaaaaccagggaaaaccaagagatgaccaa c.*720
. | 07 . . . . | 08. g.16694
ctgctggtgacacat | cttgctctgggcaggacggagagtccaatggccctgaaacag | c c.*778
(downstream sequence)
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