(used for variant description)
(last modified February 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_032193.3 in the RNASEH2C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008976.2, covering RNASEH2C transcript NM_032193.3.(upstream sequence) . . . . . . g.5060 ctggaaaaccctaggacttgaacccagggaaagcgttagggggtaaggggactacacttc c.-121 . . . . . . g.5120 ccgtgaagctccgcggcggcttcccgtgaggccccgcggaggcttcctgagaggtcctgc c.-61 . . . . . . g.5180 gcgctttccgcgccagcttcagtgtcagctcgcgagccctggcgtcgcgtaggagggagg c.-1 . . . . . . g.5240 ATGGAGAGCGGCGACGAAGCGGCCATCGAGAGGCACCGCGTCCACTTGCGCTCCGCCACA c.60 M E S G D E A A I E R H R V H L R S A T p.20 . . . . . . g.5300 TTGCGCGACGCCGTACCCGCCACACTGCATCTGCTGCCCTGCGAGGTTGCGGTGGACGGG c.120 L R D A V P A T L H L L P C E V A V D G p.40 . . . . . | 02 . g.5529 CCCGCCCCGGTGGGGCGCTTCTTCACGCCCGCCATCCGCCAGGGCCCCGAGG | GACTCGAA c.180 P A P V G R F F T P A I R Q G P E G | L E p.60 . . . . . . g.5589 GTGTCGTTTCGGGGCCGCTGTCTACGGGGAGAGGAGGTGGCGGTGCCGCCTGGCCTCGTG c.240 V S F R G R C L R G E E V A V P P G L V p.80 . . . . . . g.5649 GGATACGTGATGGTGACAGAAGAGAAGAAGGTGTCGATGGGGAAGCCAGACCCCTTGCGG c.300 G Y V M V T E E K K V S M G K P D P L R p.100 . . . . | 03 . g.5786 GATTCCGGGACTGACGACCAAGAGGAGGAGCCGCTGGAGCGGGACTTC | GACCGCTTCATT c.360 D S G T D D Q E E E P L E R D F | D R F I p.120 . . . . . . g.5846 GGAGCCACTGCCAACTTCAGCCGCTTCACCCTGTGGGGTCTGGAGACCATCCCTGGCCCG c.420 G A T A N F S R F T L W G L E T I P G P p.140 . . . . | 04 . g.6141 GATGCCAAAGTGCGTGGGGCCTTAACTTGGCCCAGCCTTGCGGCAGCG | ATTCACGCACAG c.480 D A K V R G A L T W P S L A A A | I H A Q p.160 . g.6156 GTGCCCGAGGACTGA c.495 V P E D X p.164 . . . . . . g.6216 gaaccagagcttgaaattcaaagctgcgatcccttcacagcagtaaaccagctctttgga c.*60 . . . . . . g.6276 accgattccatcaccccaataaaggagctcttcacagcacctgtgagtctgggcgcctta c.*120 . . . . . . g.6336 gagcccctaagccagcatgggccctttccccctccccaccaagaactttgcatggctctg c.*180 . . . . . . g.6396 gcatatagaaacaatttattgccgggggcaataggggtaagagaagccagaaatttttgc c.*240 . . . . . . g.6456 agccagcacccaccccacccccaacttctactttacaaaagaaatttttacaatcaccag c.*300 . . . . . . g.6516 ccctctgtacagagctcccccatccggatcccttctcactgtacacagctgcctggctcc c.*360 . . . . . . g.6576 ctctggtccctgcttcagaggaggcctgggcctgtggccagctgaccttggagttggtct c.*420 . . . . . . g.6636 gagcccggagctcgccttggtgctgggcaccagtgggcccctgccaggcctgtcctctcc c.*480 . . . . . . g.6696 tttttgagctgtcctcagccccatctcccttagagtgctttgtgggagctgcagtggggg c.*540 . . . . . . g.6756 cggggtgggctatcagccccagtcctgctgccgtcttggcactgcagtgggcagtgtctg c.*600 . . . . . . g.6816 gtcaccacttccccctcttgctccagtccttgggagtgaagtgcagacacttggagtcga c.*660 . . . . . . g.6876 tccgcaggagccgcttgagcatggcccgctcatggccatccacgatgtcctctgacagtg c.*720 . . . . . . g.6936 tgaggatgtactggccctgggcagaggagatgggttcagcaggtggtcagcccacagagg c.*780 . . . . . . g.6996 actgcactctgcatcccacacacctgtctcccctgcctgcctccctaccttgtagtagtt c.*840 . . . . . . g.7056 gatgagattgaggtactgcagagtggagatgacatcctccttcttgatgctggtgatttc c.*900 . . . . . . g.7116 actaatctcactgtgggagagcacaggtcaggttccctgaggacctttatctgtccccag c.*960 . . . . . . g.7176 gagccctgagagagaaagcccaggaacagacaagccatgccatgtacccccaggtagaca c.*1020 . . . . . . g.7236 gcgccaggctcacttgatggtgatctgtggcctctccccgctctccgacttcagccccat c.*1080 . . . . . . g.7296 caggatctccaggatggtctgggaccagtagcttcgataggataggaggccaaggtctga c.*1140 . . . . . . g.7356 gaggggcttctcaggggtccctgttttcccttccactttggagagttcatagcctaaagc c.*1200 . . . . . . g.7416 aatggagcaggagagggtgagtaagaggtcacagatgaacataagcaacatttaaaaaca c.*1260 . . . . . . g.7476 caggttgccaaggcaggctgcctagttcctatcatggccctgccacttggcagttctatg c.*1320 . . . . . . g.7536 ccctccacttctctgtgcctcagttccctcaggaagaactgagtattcactctttccgtg c.*1380 . . . . . . g.7596 cgctgagcacagtggagggcatgagggcactgagaggagcagctgcagtcaaccatgagg c.*1440 . . . . . . g.7656 gtgatcagaggccagtgaaggcttatgggcaggggatgcagagaaaatggctcatgggaa c.*1500 . . . . . . g.7716 gaaggggcctccaattttcctttgccatcccgggctctgtgtctagccatgtaaggaagt c.*1560 . . . . . . g.7776 ggagacagattcctgtctctaatccagacctgagaatgcttgaattctcaaagtcctcct c.*1620 . . . . . . g.7836 agctgggaccttgggagtgtcacctgctgtaagacttgagtggcctgactgggtggttgt c.*1680 . . . . . . g.7896 gaggatgcaaggagaaaaggtgcaccaaggtgcttcctaagtcggggagaccattcctgg c.*1740 . . . . . . g.7956 gagccacgtgactgacccccaccatggctctttccctccaactcgtgctgatagctggcc c.*1800 . . . . . . g.8016 gctgggaggccgtccccagtgagatcctcagaccctgcacagccctgagtggcttcacat c.*1860 . . . . . . g.8076 ctcttggtcagtgtcttcattctccccagtcagggacctgggatgtttgttacttctaga c.*1920 . . . . . . g.8136 agcccttcctcaccctcataatggaccttagccccttgctggtcccactcacatcccgtc c.*1980 . . . . . . g.8196 tccattgctgtctgagttccaagactgagtttcttcaagcatccacttgtgctaccaggc c.*2040 . . . . . . g.8256 tgagaagttctgaggatgtgaccccatctgggcatcatttaaccaataaaatttctcgaa c.*2100 . g.8266 tggaccataa c.*2110 (downstream sequence)Legend:
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