(used for variant description)
(last modified June 16, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005654.4 in the NR2F1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering NR2F1 transcript NM_005654.4.(upstream sequence) g.5007 cctcttt c.-1681 . . . . . . g.5067 ctcccccctctctccctcctctcctctctctctcctctcttctctgaacctctcttctct c.-1621 . . . . . . g.5127 ttctcttttcttacatattctactagttgttttccccttcttcttctcctttctctcctt c.-1561 . . . . . . g.5187 tttctccctcctccttgtctcttttactccattcctgcagaagagagagggctaaactta c.-1501 . . . . . . g.5247 aagaaaaaaaaaaggaggaggaggaggaggaggcacccccttcgtattcttcttatcgtt c.-1441 . . . . . . g.5307 attttatacatatatgattttttttggagggagggtgttggttgccggctgaagagcact c.-1381 . . . . . . g.5367 tatttaaaatactaaaaaaagaacatttttgggcgatctccagggtttttttaactagct c.-1321 . . . . . . g.5427 ctgtgtgttatagcagaagaagcagaagaaggagcaagaaagaggaaaagaagaggatta c.-1261 . . . . . . g.5487 tttattcgacctactttggatgtctctctcgcttttcctttttcctttttttggcaatta c.-1201 . . . . . . g.5547 ttttcttctgatttttattttttctatttcgctgtgatttcgtcgccggcgtgaattatc c.-1141 . . . . . . g.5607 ccgtatttttctcccccttccgtcacctcccgaaagaagaaggcagcgagagcccggcgc c.-1081 . . . . . . g.5667 caccggcacaacaaaaagagcaaagtgtgtgatcttcctcgccggctgcctcccgctctc c.-1021 . . . . . . g.5727 cagcgctgccttcctgaatggctggctgcgtccggccctggacctggccccccgacaccc c.-961 . . . . . . g.5787 gcgcgccctgatcgccggcggcagcctcgcccagcgccctgctcggctcaccgcgctccc c.-901 . . . . . . g.5847 cgcactcccgagcccggcgagggctcccgccgggacagcggcggcgccgcgggcggcccc c.-841 . . . . . . g.5907 ggcctccgctcgcgctccggctgcggccccgactcctgctcggactccggcccgggtccc c.-781 . . . . . . g.5967 ggctcctccagcggcgctcgccgcagcagctccggcggcagctccagcggcgcctgcagc c.-721 . . . . . . g.6027 cgcgacctcctcctcctccgccgccgccgccgcctccgccctcgccggcttcctctatgt c.-661 . . . . . . g.6087 cggctcagcccgcgcgctgcgcgtagcccgagcggccggcgggcgggcgcccggcgcggg c.-601 . . . . . . g.6147 tgagcgactgtgtgtgcgagtgtgtgtgtgcgcgggggtgcgggcgaggcggagggcgag c.-541 . . . . . . g.6207 tgtgtgcgcgcgccgtggcccatgcccgccgcccccggcgctgcgccccgcgccgctccc c.-481 . . . . . . g.6267 ggctgccgcctgtgccatttctgattttgcaacttggggaagaagaaaaaagcgagagaa c.-421 . . . . . . g.6327 gggagcttgctcgccggggggtggggaggggggaaggagagcgcggcccccccaggaacg c.-361 . . . . . . g.6387 gagcgcggggggagcgggcgaggggagcaggggtgttggggggggagcctgagagcctgg c.-301 . . . . . . g.6447 gggggctgcaaaaagagagaaagaaaacagcaggaaccacaacaaaacgccagcagggcg c.-241 . . . . . . g.6507 ggcgggcgcgcagcagcagcggggcggccgaggcagtagcggcggcagcggcggcggcgg c.-181 . . . . . . g.6567 cggaggcagcggccggtgtccggctcgggctcggctcctgcgaccccggggcgcccggcg c.-121 . . . . . . g.6627 ggccccccgccccctccccctccccccttccccttccccttcccctcccagcgcgcccgc c.-61 . . . . . . g.6687 gcgccccgcggccctcggcgagcagctcggctccccccagcgctccccgggcccaaagat c.-1 . . . . . . g.6747 ATGGCAATGGTAGTTAGCAGCTGGCGAGATCCGCAGGACGACGTGGCCGGGGGCAACCCC c.60 M A M V V S S W R D P Q D D V A G G N P p.20 . . . . . . g.6807 GGCGGCCCCAACCCCGCAGCGCAGGCGGCCCGCGGCGGCGGCGGCGGCGCCGGCGAGCAG c.120 G G P N P A A Q A A R G G G G G A G E Q p.40 . . . . . . g.6867 CAGCAGCAGGCGGGCTCGGGCGCGCCGCACACGCCGCAGACCCCGGGCCAGCCCGGAGCG c.180 Q Q Q A G S G A P H T P Q T P G Q P G A p.60 . . . . . . g.6927 CCCGCCACCCCCGGCACGGCGGGGGACAAGGGCCAGGGCCCGCCCGGTTCGGGCCAGAGC c.240 P A T P G T A G D K G Q G P P G S G Q S p.80 . . . . . . g.6987 CAGCAGCACATCGAGTGCGTGGTGTGCGGGGACAAGTCGAGCGGCAAGCACTACGGCCAA c.300 Q Q H I E C V V C G D K S S G K H Y G Q p.100 . . . . . . g.7047 TTCACCTGCGAGGGCTGCAAAAGTTTCTTCAAGAGGAGCGTCCGCAGGAACTTAACTTAC c.360 F T C E G C K S F F K R S V R R N L T Y p.120 . . . . . . g.7107 ACATGCCGTGCCAACAGGAACTGTCCCATCGACCAGCACCACCGCAACCAGTGCCAATAC c.420 T C R A N R N C P I D Q H H R N Q C Q Y p.140 . . . . | 02 . . g.9597 TGCCGCCTCAAGAAGTGCCTCAAAGTGGGCATGAGGCGGGAAG | CGGTTCAGCGAGGAAGA c.480 C R L K K C L K V G M R R E A | V Q R G R p.160 . . . . . . g.9657 ATGCCTCCAACCCAGCCCAATCCAGGCCAGTACGCACTCACCAACGGGGACCCCCTCAAC c.540 M P P T Q P N P G Q Y A L T N G D P L N p.180 . . . . . . g.9717 GGCCACTGCTACCTGTCCGGCTACATCTCGCTGCTGCTGCGCGCCGAGCCCTACCCCACG c.600 G H C Y L S G Y I S L L L R A E P Y P T p.200 . . . . . . g.9777 TCGCGCTACGGCAGCCAGTGCATGCAGCCCAACAACATTATGGGCATCGAGAACATCTGC c.660 S R Y G S Q C M Q P N N I M G I E N I C p.220 . . . . . . g.9837 GAGCTGGCCGCGCGCCTGCTCTTCAGCGCCGTCGAGTGGGCCCGCAACATCCCCTTCTTC c.720 E L A A R L L F S A V E W A R N I P F F p.240 . . . . . . g.9897 CCGGATCTGCAGATCACCGACCAGGTGTCCCTGCTACGCCTCACCTGGAGCGAGCTGTTC c.780 P D L Q I T D Q V S L L R L T W S E L F p.260 . . . . . . g.9957 GTGCTCAACGCGGCCCAGTGCTCTATGCCGCTGCACGTGGCGCCGTTGCTGGCCGCCGCC c.840 V L N A A Q C S M P L H V A P L L A A A p.280 . . . . . . g.10017 GGCCTGCATGCCTCGCCCATGTCTGCCGACCGCGTCGTGGCCTTCATGGACCACATCCGC c.900 G L H A S P M S A D R V V A F M D H I R p.300 . . . . . . g.10077 ATCTTCCAGGAGCAGGTGGAGAAGCTCAAGGCGCTACACGTCGACTCAGCCGAGTACAGC c.960 I F Q E Q V E K L K A L H V D S A E Y S p.320 . . . | 03 . . . g.15254 TGCCTCAAAGCCATCGTGCTGTTCACGTCAG | ACGCCTGTGGCCTGTCGGATGCGGCCCAC c.1020 C L K A I V L F T S D | A C G L S D A A H p.340 . . . . . . g.15314 ATCGAGAGCCTGCAGGAGAAGTCGCAGTGCGCACTGGAGGAGTACGTGAGGAGCCAGTAC c.1080 I E S L Q E K S Q C A L E E Y V R S Q Y p.360 . . . . . . g.15374 CCCAACCAGCCCAGCCGTTTTGGCAAACTGCTGCTGCGACTGCCCTCGCTGCGCACCGTG c.1140 P N Q P S R F G K L L L R L P S L R T V p.380 . . . . . . g.15434 TCCTCCTCCGTCATCGAGCAGCTCTTCTTCGTCCGTTTGGTAGGTAAAACCCCCATCGAA c.1200 S S S V I E Q L F F V R L V G K T P I E p.400 . . . . . . g.15494 ACTCTCATCCGCGATATGTTACTGTCTGGGAGCAGCTTCAACTGGCCTTACATGTCCATC c.1260 T L I R D M L L S G S S F N W P Y M S I p.420 . g.15506 CAGTGCTCCTAG c.1272 Q C S X p.423 . . . . . . g.15566 accttgggcgcttcccacctgccccgtccccctagagactcagaggacccacctgggcca c.*60 . . . . . . g.15626 aggactccaaagccgcggggacaccgggaagtgcagcgggccaggcaggctgggtgggag c.*120 . . . . . . g.15686 ggaggagggccgagacaggagcagcccacccagcagaaatacaatccgagctacaaagca c.*180 . . . . . . g.15746 tgggaaaaagagactcttttaggatcagatctgtgagcacgttggcgaggaaaaacaaaa c.*240 (downstream sequence)Legend:
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