(used for variant description)
(last modified June 15, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006759.3 in the UGP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering UGP2 transcript NM_006759.3.
(upstream sequence)
g.5922
tggttt c.-301
. . . . . . g.5982
taccttttccgggagtctccagctggccctcatttgtgtccggagctcaggagttcccaa c.-241
. . . . . . g.6042
accgactcagtcgcaccaagtttccgtcttttggaattggggaaggagtttctttctttc c.-181
. . . . . . g.6102
ttttcttttttcttgagccagttttaatcgctttgaataaatactcccttaagtagttaa c.-121
. . . . . . g.6162
atataggaggagaaagaatacatcggttgttaaagcaggagaggaagagagacctgccct c.-61
. . . . . . g.6222
gtagcgtgactcctctagaaaaaaaaaaaaaaagccggagtattttactaagcccctaaa c.-1
. | 02 . . . . g.20383
ATGTCGAGATTTGTACAAG | ATCTTAGCAAAGCAATGTCTCAAGATGGTGCTTCTCAGTTC c.60
M S R F V Q D | L S K A M S Q D G A S Q F p.20
. . . . . . g.20443
CAAGAAGTCATTCGGCAAGAGCTAGAATTATCTGTGAAGAAGGAACTAGAAAAAATACTC c.120
Q E V I R Q E L E L S V K K E L E K I L p.40
. . | 03. . . . g.21898
ACCACAGCATCATCACATGAATTTGAG | CACACCAAAAAAGACCTGGATGGATTTCGGAAG c.180
T T A S S H E F E | H T K K D L D G F R K p.60
. . . . . . g.21958
CTATTTCATAGATTTTTGCAAGAAAAGGGGCCTTCTGTGGATTGGGGAAAAATCCAGAGA c.240
L F H R F L Q E K G P S V D W G K I Q R p.80
. | 04 . . . . . g.46547
CCCCCTGAAGATTCG | ATTCAACCCTATGAAAAGATAAAGGCCAGGGGCTTGCCTGATAAT c.300
P P E D S | I Q P Y E K I K A R G L P D N p.100
. . . . . . g.46607
ATATCTTCCGTGTTGAACAAACTAGTGGTGGTGAAACTCAATGGTGGTTTGGGAACCAGC c.360
I S S V L N K L V V V K L N G G L G T S p.120
. . . . . . g.46667
ATGGGCTGCAAAGGCCCTAAAAGTCTGATTGGTGTGAGGAATGAGAATACCTTTCTGGAT c.420
M G C K G P K S L I G V R N E N T F L D p.140
. . | 05 . . . . g.48035
CTGACTGTTCAGCAAATTGAA | CATTTGAATAAAACCTACAATACAGATGTTCCTCTTGTT c.480
L T V Q Q I E | H L N K T Y N T D V P L V p.160
. . . . . . g.48095
TTAATGAACTCTTTTAACACGGATGAAGATACCAAAAAAATACTACAGAAGTACAATCAT c.540
L M N S F N T D E D T K K I L Q K Y N H p.180
. . . | 06 . . . g.49650
TGTCGTGTGAAAATCTACACTTTCAATCAAAGCAG | GTACCCGAGGATTAATAAAGAATCT c.600
C R V K I Y T F N Q S R | Y P R I N K E S p.200
. . . . . . g.49710
TTACTTCCTGTAGCAAAGGACGTGTCTTACTCAGGGGAAAATACAGAAGCTTGGTACCCT c.660
L L P V A K D V S Y S G E N T E A W Y P p.220
. . . . . . g.49770
CCAGGTCATGGTGATATTTACGCCAGTTTCTACAACTCTGGATTGCTTGATACCTTTATA c.720
P G H G D I Y A S F Y N S G L L D T F I p.240
. . . . . . g.49830
GGAGAAGGCAAAGAGTATATTTTTGTGTCTAACATAGATAATCTGGGTGCCACAGTGGAT c.780
G E G K E Y I F V S N I D N L G A T V D p.260
. . . . . . g.49890
CTGTATATTCTTAATCATCTAATGAACCCACCCAATGGAAAACGCTGTGAATTTGTCATG c.840
L Y I L N H L M N P P N G K R C E F V M p.280
. . . | 07 . . . g.50404
GAAGTCACAAATAAAACACGTGCAGATGTAAAG | GGCGGGACACTCACTCAATATGAAGGC c.900
E V T N K T R A D V K | G G T L T Q Y E G p.300
. . . . . . g.50464
AAACTGAGACTGGTGGAAATTGCTCAAGTGCCAAAAGCACATGTAGACGAGTTCAAGTCT c.960
K L R L V E I A Q V P K A H V D E F K S p.320
. . . . . . g.50524
GTATCAAAGTTCAAAATATTTAATACAAACAACCTATGGATTTCTCTTGCAGCAGTTAAA c.1020
V S K F K I F N T N N L W I S L A A V K p.340
. . . . . | 08 . g.51447
AGACTGCAGGAGCAAAATGCCATTGACATGGAAATCATTGTGAATGCAAAG | ACTTTGGAT c.1080
R L Q E Q N A I D M E I I V N A K | T L D p.360
. . . . . . g.51507
GGAGGCCTGAATGTCATTCAATTAGAAACTGCAGTAGGGGCTGCCATCAAAAGTTTTGAG c.1140
G G L N V I Q L E T A V G A A I K S F E p.380
. . . . . . g.51567
AATTCTCTAGGTATTAATGTGCCAAGGAGCCGTTTTCTGCCTGTCAAAACCACATCAGAT c.1200
N S L G I N V P R S R F L P V K T T S D p.400
. . . . . . g.51627
CTCTTGCTGGTGATGTCAAACCTCTATAGTCTTAATGCAGGATCTCTGACAATGAGTGAA c.1260
L L L V M S N L Y S L N A G S L T M S E p.420
. . . . . | 09 . g.54123
AAGCGGGAATTTCCTACAGTGCCCTTGGTTAAATTAGGCAGTTCTTTTACGAAG | GTTCAA c.1320
K R E F P T V P L V K L G S S F T K | V Q p.440
. . . . . . g.54183
GATTATCTAAGAAGATTTGAAAGTATACCAGATATGCTTGAATTGGATCACCTCACAGTT c.1380
D Y L R R F E S I P D M L E L D H L T V p.460
. . . | 10 . . g.55177
TCAGGAGATGTGACATTTGGAAAAAATGTTTCATTAAAG | GGAACGGTTATCATCATTGCA c.1440
S G D V T F G K N V S L K | G T V I I I A p.480
. . . . . . g.55237
AATCATGGTGACAGAATTGATATCCCACCTGGAGCAGTATTAGAGAACAAGATTGTGTCT c.1500
N H G D R I D I P P G A V L E N K I V S p.500
. . g.55264
GGAAACCTTCGCATCTTGGACCACTGA c.1527
G N L R I L D H X p.508
. . . . . . g.55324
aatgaaaaatactgtggacacttaaataatgggctagtttcttacaatgaaatgttctct c.*60
. . . . . . g.55384
aggattctaaaataggcaggtactttactatgttactgtaccctgcagtgttgattttta c.*120
. . . . . . g.55444
aaatagagttttctgcagtatgcttttagtctaagaaaagcacagatggagcaatacttt c.*180
. . . . . . g.55504
ccttctttgaagagaatcccaaaagttagttcatcttaaagtgcaatattgtttaatctt c.*240
. . . . . . g.55564
aaaactgggcaactttggaagaacttttaacagaagcctcaatgatgatcactttgaatt c.*300
. . . g.55599
gcttgtgatttcaaaaataaagcagtgaagcaata c.*335
(downstream sequence)
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