(used for variant description)
(last modified November 11, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001080507.2 in the OOEP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering OOEP transcript NM_001080507.2.
(upstream sequence)
. . . . . . g.60
ATGGTCGATGATGCTGGTGCCGCTGAGTCCCAGCGGGGCAAACAGACTCCGGCCCACTCC c.60
M V D D A G A A E S Q R G K Q T P A H S p.20
. . . . . . g.120
CTGGAGCAGCTGCGTAGGTTACCACTTCCGCCGCCACAGATTCGCATCCGGCCCTGGTGG c.120
L E Q L R R L P L P P P Q I R I R P W W p.40
. . . . . . g.180
TTTCCGGTGCAGGAACTGAGAGACCCTTTGGTGTTCTACCTAGAGGCATGGCTGGCAGAC c.180
F P V Q E L R D P L V F Y L E A W L A D p.60
. | 02 . . . . . g.457
GAGCTCTTTG | GCCCAGACCGAGCCATAATTCCAGAAATGGAGTGGACGAGCCAGGCCCTG c.240
E L F G | P D R A I I P E M E W T S Q A L p.80
. . . . . . g.517
CTGACAGTGGACATAGTTGACTCAGGGAACCTAGTCGAAATCACCGTTTTCGGGCGGCCC c.300
L T V D I V D S G N L V E I T V F G R P p.100
. . . . . . g.577
CGTGTACAGAATCGGGTGAAGAGCATGCTCCTGTGCCTGGCATGGTTTCACCGAGAACAT c.360
R V Q N R V K S M L L C L A W F H R E H p.120
. | 03 . . . . . g.979
CGTGCCCGAG | CTGAGAAGATGAAACACCTTGAGAAGAACTTGAAGGCCCATGCATCAGAC c.420
R A R A | E K M K H L E K N L K A H A S D p.140
. . . g.1009
CCCCACTCTCCCCAGGATCCTGTTGCTTAA c.450
P H S P Q D P V A X p.149
. . . . . . g.1069
gacaacatagttactgttgggaacatcttaactttctaacttttgctgctaaagttgaag c.*60
. . . . . . g.1129
aaaagcaagtatagcattcttaaatccccgtattcctttttcctgtgtcttgatggattg c.*120
. . . . . . g.1189
tggtttattttgttgcaagagtgagtttgaactattctaataaagaaatggctattttgc c.*180
. . . . g.1238
caaaagcattaagatcttcacacacttataataaagcaaatttataaaa c.*229
(downstream sequence)
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