(used for variant description)
(last modified September 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000511.5 in the FUT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007511.1, covering FUT2 transcript NM_000511.5.(upstream sequence) g.5001 a c.-121 . . . . . . g.5061 gtcaccgatgctggaagggtttctttggccctgagtgaagagagacccagagggaacact c.-61 . . . . . . | 02 g.11986 gaggtgcctgcccaaccactctgtcccggtttccttcagcaggaccaggtgagagaag | cc c.-1 . . . . . . g.12046 ATGCTGGTCGTTCAGATGCCTTTCTCCTTTCCCATGGCCCACTTCATCCTCTTTGTCTTT c.60 M L V V Q M P F S F P M A H F I L F V F p.20 . . . . . . g.12106 ACGGTTTCCACTATATTTCACGTTCAGCAGCGGCTAGCGAAGATTCAAGCCATGTGGGAG c.120 T V S T I F H V Q Q R L A K I Q A M W E p.40 . . . . . . g.12166 TTACCGGTGCAGATACCAGTGCTAGCCTCAACATCAAAGGCACTGGGACCCAGCCAGCTC c.180 L P V Q I P V L A S T S K A L G P S Q L p.60 . . . . . . g.12226 AGGGGGATGTGGACGATCAATGCAATAGGCCGCCTGGGGAACCAGATGGGCGAGTACGCC c.240 R G M W T I N A I G R L G N Q M G E Y A p.80 . . . . . . g.12286 ACACTGTACGCCCTGGCCAAGATGAACGGGCGGCCCGCCTTCATCCCGGCCCAGATGCAC c.300 T L Y A L A K M N G R P A F I P A Q M H p.100 . . . . . . g.12346 AGCACCCTGGCCCCCATCTTCAGAATCACCCTGCCGGTGCTGCACAGCGCCACGGCCAGC c.360 S T L A P I F R I T L P V L H S A T A S p.120 . . . . . . g.12406 AGGATCCCCTGGCAGAACTACCACCTGAACGACTGGATGGAGGAGGAATACCGCCACATC c.420 R I P W Q N Y H L N D W M E E E Y R H I p.140 . . . . . . g.12466 CCGGGGGAGTACGTCCGCTTCACCGGCTACCCCTGCTCCTGGACCTTCTACCACCACCTC c.480 P G E Y V R F T G Y P C S W T F Y H H L p.160 . . . . . . g.12526 CGCCAGGAGATCCTCCAGGAGTTCACCCTGCACGACCACGTGCGGGAGGAGGCCCAGAAG c.540 R Q E I L Q E F T L H D H V R E E A Q K p.180 . . . . . . g.12586 TTCCTGCGGGGCCTGCAGGTGAACGGGAGCCGGCCGGGCACCTTTGTAGGGGTCCATGTT c.600 F L R G L Q V N G S R P G T F V G V H V p.200 . . . . . . g.12646 CGCCGAGGGGACTATGTCCATGTCATGCCAAAAGTGTGGAAGGGGGTGGTGGCCGACCGG c.660 R R G D Y V H V M P K V W K G V V A D R p.220 . . . . . . g.12706 CGATACCTACAGCAGGCCCTGGACTGGTTCCGAGCTCGCTACAGCTCCCTCATCTTCGTG c.720 R Y L Q Q A L D W F R A R Y S S L I F V p.240 . . . . . . g.12766 GTCACCAGTAATGGCATGGCCTGGTGTCGGGAGAACATTGACACCTCCCACGGTGATGTG c.780 V T S N G M A W C R E N I D T S H G D V p.260 . . . . . . g.12826 GTGTTTGCTGGCGATGGCATTGAGGGCTCACCTGCCAAAGATTTTGCTCTACTCACACAG c.840 V F A G D G I E G S P A K D F A L L T Q p.280 . . . . . . g.12886 TGTAACCACACCATCATGACCATTGGGACGTTCGGGATCTGGGCCGCATACCTCACGGGC c.900 C N H T I M T I G T F G I W A A Y L T G p.300 . . . . . . g.12946 GGAGACACCATCTACCTGGCCAATTACACCCTCCCCGACTCCCCTTTCCTCAAAATCTTT c.960 G D T I Y L A N Y T L P D S P F L K I F p.320 . . . . . . g.13006 AAGCCAGAGGCAGCCTTCCTGCCGGAGTGGACAGGGATTGCCGCAGACCTGTCCCCCTTA c.1020 K P E A A F L P E W T G I A A D L S P L p.340 . g.13018 CTCAAGCACTAA c.1032 L K H X p.343 . . . . . . g.13078 tgctggcccattctttgagaccttttctccttctctgcctccctcaagatgagtgcccgg c.*60 . . . . . . g.13138 gcatgagaagcacatggttccatgagcaggacccatctctcttctgtgaagatgcgttgg c.*120 . . . . . . g.13198 gctgcaagtaacagaaatctcagtgaacagtggcctggcgtggtggctcatgcctgtaat c.*180 . . . . . . g.13258 gctcgcactttgtgaggccagggtgggtggatcacttgaggtcaggagttcaagactagc c.*240 . . . . . . g.13318 ctggccaacatggtgaaaccccatctcgactaaaaatacaaaaattagccaggcgtggtg c.*300 . . . . . . g.13378 gtgcacacctgtaatcccagctactcgggaggctgaggcaagagaatcacttgaacccag c.*360 . . . . . . g.13438 gaggcggaggttgcagtgagccaagatggtgccgctgcactccagtctgggtgacacagc c.*420 . . . . . . g.13498 aagactccatctcaaaaaaaaaaaaaaaaaaaagaaaagaaaaagaaatgaatgggttca c.*480 . . . . . . g.13558 aagaccataatcatgcatatcacataagaccagaagtggcccaggtccagggtcagttaa c.*540 . . . . . . g.13618 tttagcggctccacaaagtcatcagtcacctgagctccatccatcttcacatgctgtgct c.*600 . . . . . . g.13678 accatttcttagctgtatcatcccatggtcccaaaagggctgctacacatccagccatca c.*660 . . . . . . g.13738 catgcagataattcctttcaaaaacagcagaaagaggctcgttcttgtcttggtcccttt c.*720 . . . . . . g.13798 tgaagaatgaatgaaaccttcctaagccttccagcaatttccccccaactccgatgggta c.*780 . . . . . . g.13858 ggaattgtcacatacccatgtgacccgataggaggcaaaagaaatgagacttctgggatt c.*840 . . . . . . g.13918 agtttagcctcagattctgcagctgagaagttgatcagccacctctgaaggacatgcagc c.*900 . . . . . . g.13978 ttgcagaaaattagggtggtgttaccaaggtgaaaaggggaaatggctttagagtagaca c.*960 . . . . . . g.14038 acagagatgccctgaggggttgtgtaggttgttcactgcaggaagtcccctggttaagaa c.*1020 . . . . . . g.14098 ggcaagtggggtttaaacagacccacagtctactcatcaaaccaggtgtccttggcattg c.*1080 . . . . . . g.14158 tgtccacccagagagctcactgttttcttttctttttcttttcttttttttttttttttt c.*1140 . . . . . . g.14218 gagatggagtcttgctgcatcccccaggctggagtgcagtggcatgatcttggctcactg c.*1200 . . . . . . g.14278 cagcctccgcctcccaggttcaagcgattctcctgcctcagcctcccgagtagctaggat c.*1260 . . . . . . g.14338 tacaggtgcgtgccaccacgcccagctaatttttatatgtttagtggaaatggagtttca c.*1320 . . . . . . g.14398 ccatgttggtcaggctggtctcaaactcctgacctcatgatccgccttcctcggcctccc c.*1380 . . . . . . g.14458 aaagtgctgggattacaggtgttagccactgcgcccggccctagagctcactgttttcta c.*1440 . . . . . . g.14518 gttagtccatctggaagtggagcctttttccagtttgcacaaatgtgccatattggcttg c.*1500 . . . . . . g.14578 tagctggcatgcatccaagtccataggtcctgcctcttcaatcctggctttctagggcct c.*1560 . . . . . . g.14638 gggatgatcattgctagaactgagagaccagcctggctcagtgaacttcagggcgttccg c.*1620 . . . . . . g.14698 ttcattctttcagtaaatgtttgcagcacatgtgttacatgtcaggcagtgaaacccccc c.*1680 . . . . . . g.14758 acagcagccttccctctcagaggatacatttgtaaccattacacagtcatcaaaggaata c.*1740 . . . . . . g.14818 attttttttaatcaccagtgtgcatacagtcatggagttgggtattcccagctaccaggg c.*1800 . . . . . . g.14878 aggctgaggtgggaggattgcttgatgccaggagttagggaatatagtgcaccgtgattg c.*1860 . . . . . . g.14938 gacttgcgaatagccactgcactgcggcctggacgacgtagtgataccctgactcttata c.*1920 . . g.14964 aataaataaatgaataaacacaatta c.*1946 (downstream sequence)Legend:
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