(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TAPBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering TAPBP transcript NM_003190.4.(upstream sequence) g.9 CTTCTTTGA | c.10 L L X p.2 . . | 02 . . . . g.207 atccttgcaggtggacaggtagacag | cagcccagcccagtgccttgaagagcccaagcag c.*60 . . . . . | 03 . g.346 aagaaaggcagacaggaaaaggcctacgctgtcctcaagggagggccctgaaagac | ctgc c.*120 . . . . . . g.406 tacctccagggtgacctcagcgctgcgccccgaggcaggcaggctgggatggtgaattcg c.*180 . . . . . . g.466 acaggcatagcgtgccccatgctgctcagtggtgactgggggcggctgcaagtgcccaga c.*240 . . . . . . g.526 gaggctgacagagccatcggaatggtggcgcagggccgagagccacctctgcccctcggc c.*300 . . . . . . g.586 cttctgagagcggccccctgggccaccccggagttcccactccacctccaggcccccaga c.*360 . . . . . . g.646 agggtagaagtgggacacaaggcagagcaattccgggggtgcctcccctggggcggcccg c.*420 . . . | 04 . . g.1056 tgcaagggttgctggcatcagggacactttggggggtt | tgtacacagcaagctccagggt c.*480 . . . . . . g.1116 gacctgtccttgcaggtatggcaggtgtatggtggccagataggtgccctcctgaaaggg c.*540 . . . . . . g.1176 ttgaactgtaggcagccagaaggtcccatttccggtccatgggccccatggctcatcatc c.*600 . . . . . . g.1236 atcccaagcagcaaatgccacggccccttcttgggctgctggcatctggccattcagccc c.*660 . . . . . . g.1296 aggagttgcagccaggagcagatgtcccttacccaggtgctggcgtcgccactctagccc c.*720 . . . . . . g.1356 aaagggagggggacccggagccagagatgaggcggcctcggaggtggggggcatgtaggc c.*780 . . . . . . g.1416 aaagctcaagtccagcagagcatcttgtcccagtctcactcgaggggcaggggtgtgggt c.*840 . | 05. . . . . g.9305 gaggacagtcagtacca | ctgttgccatggtgatgagaacaggctcctgctgaggctctgg c.*900 . . . . . . g.9365 ctgtggtcgcaagaggctggagaggctgaggactgggctggatatgctgaccatcagcca c.*960 . . . . . . g.9425 agccccatccagggcccgcgggcagttctgcgcgggggtcaggccgctggcccatttcgc c.*1020 . . . . . . g.9485 agaggcggggagaggcacgaagcggctcatctcgcagtgtggtgcgggggcgccccgggg c.*1080 . . . | 06 . . g.9761 ataccgcctgaaggcagcctggagggcgcccgcggggt | cgtgtacactgagatagagctc c.*1140 . . . . . . g.9821 agggtcgaggtccggccggggcggcggttcccccggtccctggcgcaacagcagtgcacc c.*1200 . . . . . . g.9881 gggtctcttggccaggccctttccgctcgcatcctccacgaaccaacactcgatcaccgc c.*1260 . . | 07 . . . g.10081 gggtcctgctgagacggcggtcgccaggc | ccaaagccacagcgaggagcagagacaggga c.*1320 . . . . . . g.10141 cttcatggcgctgcgacctcctcagccatgaagcctcctcttcctcctttcactttcact c.*1380 . . . . . . g.10201 ttcctccaaagggcggcatgaggggcggtggaaatccccgctctggttaggtgaaggtgc c.*1440 . . . . . . g.10261 ctgggggaccggtgtttccccactggccaggcagggacccgggtagatcctctccagttc c.*1500 . . . . . . g.10321 tcaccaggacaccccagccttaccgcgccctcctggactacccagcagccccgagttcga c.*1560 . . . . . . g.10381 gccctccccaaccccaggccctcccccgccccccaactcctgtgtgtgctctccaacatc c.*1620 . . . . . | 08 . g.10441 cacttgcccgaaaaccattactccggcttccccctatctgtgccgcgtcccc | c c.*1673 (downstream sequence)Legend:
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