(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018475.4 in the TMEM165 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032881.1, covering TMEM165 transcript NM_018475.4.(upstream sequence) . . . g.5037 gggccgggaggagtcggggctgggccgcgccgaggca c.-241 . . . . . . g.5097 gctggctgactccagtttagccgccgccggagaggacgggcgccgagccggggctgcgga c.-181 . . . . . . g.5157 cttcggcctgcccctcacctcactcccgctgcttgcacctcccggatggtgctgactgct c.-121 . . . . . . g.5217 ccctaagcggcggcggcggcgagtcgtgaggacgcgccgcggaggctgttcggggtcgag c.-61 . . . . . . g.5277 gcttcccgtcgccggcacttcctcttgcggcgcccgtgcgcggccggcccggcaggcggg c.-1 . . . . . . g.5337 ATGGCGGCCGCGGCTCCAGGGAACGGCCGCGCATCGGCGCCCCGGCTGCTTCTGCTCTTT c.60 M A A A A P G N G R A S A P R L L L L F p.20 . . . . . . g.5397 CTGGTTCCGCTGCTGTGGGCCCCGGCTGCGGTCCGGGCCGGCCCAGATGAAGACCTTAGC c.120 L V P L L W A P A A V R A G P D E D L S p.40 . . . . . . g.5457 CACCGGAACAAAGAACCGCCGGCGCCGGCCCAGCAGCTGCAGCCGCAGCCTGTGGCTGTG c.180 H R N K E P P A P A Q Q L Q P Q P V A V p.60 . . | 02. . . . g.20734 CAGGGCCCCGAGCCGGCCCGGGTCGAG | AAAATATTTACACCAGCAGCTCCAGTTCATACC c.240 Q G P E P A R V E | K I F T P A A P V H T p.80 . . . . . . g.20794 AATAAAGAAGATCCTGCTACCCAAACTAATTTGGGATTTATCCATGCATTTGTCGCTGCC c.300 N K E D P A T Q T N L G F I H A F V A A p.100 . . . . . . g.20854 ATATCAGTTATTATTGTATCTGAATTGGGTGATAAGACATTTTTTATAGCAGCCATCATG c.360 I S V I I V S E L G D K T F F I A A I M p.120 . . . . . . g.20914 GCAATGCGCTATAACCGCCTGACCGTGCTGGCTGGTGCAATGCTTGCCTTGGGACTAATG c.420 A M R Y N R L T V L A G A M L A L G L M p.140 . | 03 . . . . . g.26206 ACATGCTTGTCAG | TTTTGTTTGGCTATGCCACCACAGTCATCCCCAGGGTCTATACATAC c.480 T C L S V | L F G Y A T T V I P R V Y T Y p.160 . . . . . . g.26266 TATGTTTCAACTGTATTATTTGCCATTTTTGGCATTAGAATGCTTCGGGAAGGCTTAAAG c.540 Y V S T V L F A I F G I R M L R E G L K p.180 . . . . . . g.26326 ATGAGCCCTGATGAGGGTCAAGAGGAACTGGAAGAAGTTCAAGCTGAATTAAAGAAGAAA c.600 M S P D E G Q E E L E E V Q A E L K K K p.200 | 04 . . . . . g.26941 GATGAAGAA | TTTCAACGAACCAAACTTTTAAATGGACCGGGAGATGTTGAAACGGGTACA c.660 D E E | F Q R T K L L N G P G D V E T G T p.220 . . . . . . g.27001 AGCATAACAGTACCTCAGAAAAAGTGGTTGCATTTTATTTCACCCATTTTTGTTCAAGCT c.720 S I T V P Q K K W L H F I S P I F V Q A p.240 . . . . . . g.27061 CTTACATTAACATTCTTAGCAGAATGGGGTGATCGCTCTCAACTAACTACAATTGTATTG c.780 L T L T F L A E W G D R S Q L T T I V L p.260 . | 05 . . . . . g.33673 GCAGCTAGAGAG | GACCCCTATGGTGTAGCCGTGGGTGGAACTGTGGGGCACTGCCTGTGC c.840 A A R E | D P Y G V A V G G T V G H C L C p.280 . . . . . | 06 g.34465 ACGGGATTGGCAGTAATTGGAGGAAGAATGATAGCACAGAAAATCTCTGTCAGAACTG | TG c.900 T G L A V I G G R M I A Q K I S V R T V | p.300 . . . . . . g.34525 ACAATCATAGGAGGCATCGTTTTTTTGGCGTTTGCATTTTCTGCACTATTTATAAGCCCT c.960 T I I G G I V F L A F A F S A L F I S P p.320 . g.34540 GATTCTGGTTTTTAA c.975 D S G F X p.324 . . . . . . g.34600 caagctgtttgttcatctatatttagtttaaaataggtagtattatctttctgtacatag c.*60 . . . . . . g.34660 tgtacattacaactaaaagtgatggaaaaatactgtattttgtagcactgattttgtgag c.*120 . . . . . . g.34720 tttgacccattattatgtctgagatataatcattgattctatttgtaacaaggagtttta c.*180 . . . . . . g.34780 aaagaaacctgacttctaagtgtgggtttttcttctctccaacataattatgttaatatg c.*240 . . . . . . g.34840 gtcctcatttttcttttggtgcagaaccgttgtgcagtggggtctaccatgcaattttct c.*300 . . . . . . g.34900 ttcagcactgacccctttttaaggaatacaaattttctccttcatcacttaggtgtttta c.*360 . . . . . . g.34960 agatgtttaccttaaagtttttcttggggaaagaatgaattaatttctatttcttaaaac c.*420 . . . . . . g.35020 atttccctgagccagtaaacagtagtttaatcattggtcttttcaaaactaggtgtttaa c.*480 . . . . . . g.35080 aaaaagagacatatatgatattgctgttatatcaataacatggcacaacaagaactgtct c.*540 . . . . . . g.35140 gccaggtcattcttcctcttttttttttaattgggtaggacacccaatataaaaacagtc c.*600 . . . . . . g.35200 aatatttgacaatgtggaattaccaaattaaaagagaatactatgaatgtattcatattt c.*660 . . . . . . g.35260 tttctatattgaataaacaatgtaacatagataacaatataaataaaagtggtatgacca c.*720 g.35263 gtg c.*723 (downstream sequence)Legend:
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