(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ZBTB24 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering ZBTB24 transcript NM_014797.2.(upstream sequence) . . g.24 CGATGGATTCTGATGTGGGTCTGA c.24 R W I L M W V X p.7 . . . . . | 02 g.7748 agagaactctttgctgtgaaagatttgccacagatttcacaagtaaatggcttctcac | ct c.*60 . . . . . . g.7808 gtgtgtgttcgcagatgtttctttagctgagacacatccatgaatttgcgatggcagtct c.*120 . . | 03 . . . . g.8560 ttgcattccggtaatgagtggc | ctgtatgaactcggtaatggctctttagctgtctgttc c.*180 . . . . | 04 . . g.9124 tggctgaaatattttccgcattgatcacaggtaaaagacttctgtc | ctgagtgcaggctc c.*240 . . . . . . g.9184 atgtgctccagcagtgagtgcttggtggtcagagccttgctgcacacggtgcaggtgtac c.*300 . . . . . . g.9244 ggccgctcgcctgtgtgcatcctggtgtggacctgtagcgagtgcttctgggcaaagcct c.*360 . . . | 05 . . . g.13448 tttccacactcattacatttgaaaggtcgctccc | ctgtgtggctcctctggtggattgct c.*420 . . . . . . g.13508 aaaaagtgattgtacttaaagaccttgccacagtctttacagcgggcctcagggcctcca c.*480 . . . . . . g.13568 gggcgctttctccttccacagatcctcttggctgaaccatggtcctcttgatccccaaca c.*540 . . . . . . g.13628 agtttgtaatctttaagtttgacggatctccaaatcctccgcttgctgtatcgactctgg c.*600 . . . . . . g.13688 cttgcctggccatcctcggtcttgggatcatagttctcatctttttcaactggcatttcc c.*660 . . . . . . g.13748 tcctctctacttggctcacaagtaggctccgattcttccttttcttttgctgcaatttgc c.*720 . . . . . . g.13808 tcattcagtacaccactgtctcctttaaccacaaagttttgtctattctgaactgaattg c.*780 . . . . . . g.13868 ttcactcttaactgtatttcttcctctgcagccagttctgatttctcctcctgcaatgta c.*840 . . . . . . g.13928 ttgactttttttggtcttccccgtttccgctttggaggatcgtttttcttattagagata c.*900 . . . . . . g.13988 acaaccactggggcaccagcagtgttcaaagttgttggctttggggagctatgattattt c.*960 . . . . . . g.14048 tggaagtctgtgtaagcctttaccaggtcatagacttttaagaactgagcagtagccagg c.*1020 . . . . . . g.14108 atttgttctgtacttttctcactggcatggagataacctgtgtagataaattccagcagg c.*1080 . . . . . . g.14168 ataccaaaggtgtctgcaaccatgccttccagcatataaatggattggccgatttccccc c.*1140 . . . . . . g.14228 tcttctgcaaacatcattgagaagtattcactactggcagcaagtaaggctttgtgggcc c.*1200 . . . . . . g.14288 cggaaatgtacattctccacgattaaagtaatgtcacagaggaagcctttcttcctctga c.*1260 . . . . . . g.14348 tcctcaaaactggccagcacagtgtcactgtgagcgtctgagtgtacaacaagctgccca c.*1320 . . . . . | 06 . g.15451 gaaggctctggcgatgtttctgccattttcttcagaagccactaagggttaaat | ccggcg c.*1380 . . . . . . g.15511 gcctggcgggagacccacgccggggcccgctggccctccgctccgccccgcccgcctctg c.*1440 . . . . . . g.15571 gggcttctgcgccgcaccggtttctgctcctgcgccgccgccgcagccacagccacagcc c.*1500 . | 07 . . . . . g.15631 aacccggaagcgcg | t c.*1515 (downstream sequence)Legend:
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