(used for variant description)
(last modified March 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_006579.2 in the EBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007452.1, covering EBP transcript NM_006579.2.
(upstream sequence)
. . g.5025
ccattggctcgctccgtaaggcaag c.-181
. . . . . . g.5085
agaacccactaggggatgagcccgaactagggatgtgacagagcgcgagacccagcctaa c.-121
. . . . . | 02 . g.6936
agagagcccggagccagcgtgggaggccgctgccgtcgcgcgccttg | gtttttctgttcc c.-61
. . . . . . g.6996
ttttttttttttttttttaacttcctgcctatacacacgcagccatcagcccacaaagac c.-1
. . . . . . g.7056
ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAAC c.60
M T T N A G P L H P Y W P Q H L R L D N p.20
. . . . . . g.7116
TTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTCTTCTCTGTCACAGGG c.120
F V P N D R P T W H I L A G L F S V T G p.40
. . . . . . g.7176
GTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACT c.180
V L V V T T W L L S G R A A V V P L G T p.60
. . . . . . g.7236
TGGCGGCGACTGTCCCTGTGCTGGTTTGCAGTGTGTGGGTTCATTCACCTGGTGATCGAG c.240
W R R L S L C W F A V C G F I H L V I E p.80
. . . . . . g.7296
GGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTC c.300
G W F V L Y Y E D L L G D Q A F L S Q L p.100
| 03 . . . | 04 . . g.10401
T | GGAAAGAGTATGCCAAGGGAGACAGCCGATACATCCT | GGGTGACAACTTCACAGTGTGC c.360
W | K E Y A K G D S R Y I L | G D N F T V C p.120
. . . . . . g.10461
ATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT c.420
M E T I T A C L W G P L S L W V V I A F p.140
. . . . | 05 . g.11469
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGG | GCCAGATCTAT c.480
L R Q H P L R F I L Q L V V S V G | Q I Y p.160
. . . . . . g.11529
GGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGGAGAGCTGGGC c.540
G D V L Y F L T E H R D G F Q H G E L G p.180
. . . . . . g.11589
CACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCT c.600
H P L Y F W F Y F V F M N A L W L V L P p.200
. . . . . . g.11649
GGAGTCCTTGTGCTTGATGCTGTGAAGCACCTCACTCATGCCCAGAGCACGCTGGATGCC c.660
G V L V L D A V K H L T H A Q S T L D A p.220
. . . g.11682
AAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA c.693
K A T K A K S K K N X p.230
. . . . . . g.11742
ggagtggtggaccaggctcgaacactggccgaggaggagctctctgcctgccagaagagt c.*60
. . . . . . g.11802
ctagtcctgctcccacagtttggagggacaaagctaattgatctgtcacactcaggctca c.*120
. . . . . . g.11862
tgggcaggcacaagaaggggaataaaggggctgtgtgaaggcactgctgggagccattag c.*180
. . . . . . g.11922
aacacagatacaagagaagccaggaggtctatgatggtgacgatttttaaaatcaggaaa c.*240
. g.11941
taaaagatcttgactctaa c.*259
(downstream sequence)
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