(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)Legend:
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