(used for variant description)
(last modified October 7, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_183075.2 in the CYP2U1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007961.1, covering CYP2U1 transcript NM_183075.2.
(upstream sequence)
. . g.5023
gacactggcgccgcgggtcaggc c.-61
. . . . . . g.5083
agctgcgtgcgcgtctcctccaggcagcaaggggaacccgaggccgccggcgcccggacc c.-1
. . . . . . g.5143
ATGTCGTCTCCGGGGCCGTCGCAGCCGCCGGCCGAGGACCCGCCCTGGCCCGCGCGCCTC c.60
M S S P G P S Q P P A E D P P W P A R L p.20
. . . . . . g.5203
CTGCGTGCGCCTCTGGGGCTGCTGCGGCTGGACCCCAGCGGGGGCGCGCTGCTGCTATGC c.120
L R A P L G L L R L D P S G G A L L L C p.40
. . . . . . g.5263
GGCCTCGTAGCGCTGCTGGGCTGGAGCTGGCTGCGGAGGCGCCGGGCGCGGGGCATCCCG c.180
G L V A L L G W S W L R R R R A R G I P p.60
. . . . . . g.5323
CCCGGGCCCACGCCCTGGCCTCTGGTGGGCAACTTCGGTCACGTGCTGCTGCCTCCCTTC c.240
P G P T P W P L V G N F G H V L L P P F p.80
. . . . . . g.5383
CTCCGGCGGCGGAGCTGGCTGAGCAGCAGGACCAGGGCCGCAGGGATTGATCCCTCGGTC c.300
L R R R S W L S S R T R A A G I D P S V p.100
. . . . . . g.5443
ATAGGCCCGCAGGTGCTCCTGGCTCACCTAGCCCGCGTGTACGGCAGCATCTTCAGCTTC c.360
I G P Q V L L A H L A R V Y G S I F S F p.120
. . . . . . g.5503
TTTATCGGCCACTACCTGGTGGTGGTCCTCAGCGACTTCCACAGCGTGCGCGAGGCGCTG c.420
F I G H Y L V V V L S D F H S V R E A L p.140
. . . . . . g.5563
GTGCAGCAGGCCGAGGTCTTCAGCGACCGCCCGCGGGTGCCGCTCATCTCCATCGTGACC c.480
V Q Q A E V F S D R P R V P L I S I V T p.160
. | 02 . . . . . g.18459
AAGGAGAAGG | GGGTTGTGTTTGCACATTATGGTCCCGTCTGGAGACAACAAAGGAAGTTC c.540
K E K G | V V F A H Y G P V W R Q Q R K F p.180
. . . . . . g.18519
TCTCATTCAACTCTTCGTCATTTTGGGTTGGGAAAACTTAGCTTGGAGCCCAAGATTATT c.600
S H S T L R H F G L G K L S L E P K I I p.200
. . . . . . g.18579
GAGGAGTTCAAATATGTGAAAGCAGAAATGCAAAAGCACGGAGAAGACCCCTTCTGCCCT c.660
E E F K Y V K A E M Q K H G E D P F C P p.220
. . . . . . g.18639
TTCTCCATCATCAGCAATGCCGTCTCTAACATCATTTGCTCCTTGTGCTTTGGCCAGCGC c.720
F S I I S N A V S N I I C S L C F G Q R p.240
. . . . . . g.18699
TTTGATTACACTAATAGTGAGTTCAAGAAAATGCTTGGTTTTATGTCACGAGGCCTAGAA c.780
F D Y T N S E F K K M L G F M S R G L E p.260
. . . . . . g.18759
ATCTGTCTGAACAGTCAAGTCCTCCTGGTCAACATATGCCCTTGGCTTTATTACCTTCCC c.840
I C L N S Q V L L V N I C P W L Y Y L P p.280
. . . . . . g.18819
TTTGGACCATTTAAGGAATTAAGACAAATTGAAAAGGATATAACCAGTTTCCTTAAAAAA c.900
F G P F K E L R Q I E K D I T S F L K K p.300
. . . . . . g.18879
ATCATCAAAGACCATCAAGAGTCTCTGGATAGAGAGAACCCTCAGGACTTCATAGACATG c.960
I I K D H Q E S L D R E N P Q D F I D M p.320
. . . . . . g.18939
TACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAG c.1020
Y L L H M E E E R K N N S N S S F D E E p.340
. . . . . . g.18999
TACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCT c.1080
Y L F Y I I G D L F I A G T D T T T N S p.360
. . . . | 03 . . g.20829
TTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAG | AAAAGGTTCATGAA c.1140
L L W C L L Y M S L N P D V Q E | K V H E p.380
. . . . . . g.20889
GAAATTGAAAGAGTCATTGGCGCCAACCGAGCTCCTTCCCTCACAGACAAGGCCCAGATG c.1200
E I E R V I G A N R A P S L T D K A Q M p.400
. . . . . . g.20949
CCCTACACAGAAGCCACCATCATGGAAGTGCAGAGGCTAACTGTGGTGGTGCCGCTTGCC c.1260
P Y T E A T I M E V Q R L T V V V P L A p.420
. . | 04 . . . g.22821
ATTCCTCATATGACCTCAGAGAACACAG | TGCTCCAAGGGTATACCATTCCTAAAGGCACA c.1320
I P H M T S E N T V | L Q G Y T I P K G T p.440
. . . . . . g.22881
TTGATCTTACCCAACCTGTGGTCAGTACATAGAGACCCAGCCATTTGGGAGAAACCGGAG c.1380
L I L P N L W S V H R D P A I W E K P E p.460
. . . . . . g.22941
GATTTCTACCCTAATCGATTTCTGGATGACCAAGGACAACTAATTAAAAAAGAAACCTTT c.1440
D F Y P N R F L D D Q G Q L I K K E T F p.480
. | 05 . . . . . g.23728
ATTCCTTTTGGGATAG | GGAAGCGGGTGTGTATGGGAGAACAACTGGCAAAGATGGAATTA c.1500
I P F G I G | K R V C M G E Q L A K M E L p.500
. . . . . . g.23788
TTCCTAATGTTTGTGAGCCTAATGCAGAGTTTCGCATTTGCTTTACCTGAGGATTCTAAG c.1560
F L M F V S L M Q S F A F A L P E D S K p.520
. . . . . . g.23848
AAGCCCCTCCTGACTGGAAGATTTGGTCTAACTTTAGCCCCACATCCATTTAATATAACT c.1620
K P L L T G R F G L T L A P H P F N I T p.540
. g.23863
ATTTCAAGGAGATGA c.1635
I S R R X p.544
. . . . . . g.23923
agagcatctccaagaagagatggtaaaaagatatataaatacatatccttctaagcagat c.*60
. . . . . . g.23983
tcttcctactgcaaaggacagtgaatccagcaactcagtggatccaagctgggctcagag c.*120
. . . . . . g.24043
gtcggaaggagggtagagcacactgggaggtttcatcttggaggattcctcagcaggata c.*180
. . . . . . g.24103
cttcagccattttagtaatgcaggtctgtgatttgggggatagaaaacaaagtacctatg c.*240
. . . . . . g.24163
aaacgggatatctggattttacttgcagtggcttccaccgatgggccaatcttctcattt c.*300
. . . . . . g.24223
cttagtgcctcagacatcccatatgtaaaatgagagtaataaaacttggcttctctctac c.*360
. . . . . . g.24283
ctctcagcactaatgatggtcaaatgccttacatcttttctgatatctctaaaatgctgt c.*420
. . . . . . g.24343
taagttctggagaagaacttcaggagaagaagatctatcagctggcttttaaagacctat c.*480
. . . . . . g.24403
gacaacatgaaagtggtgttcagcctggaatgctttgtcagagatgggtgtggatttagg c.*540
. . . . . . g.24463
ttatactgggggagaacttttctcagcacagattctatgccagcttctttgggcttgttc c.*600
. . . . . . g.24523
tgtcactatctttttgtttatgattttagtttttactttttgtagatgtgggatgaagtg c.*660
. . . . . . g.24583
gactctgtcgtgtatattgaggaaaaaagaaattataattttaaaaaatcccttgtagga c.*720
. . . . . . g.24643
ttattatctaaatttatatgtctaacttctactacaactacaggaacagtgagccttgct c.*780
. . . . . . g.24703
acttctttagtagcttcttggcagaattcctttctactgagttatttgcaaagatgcagc c.*840
. . . . . . g.24763
tctacctttttacttaaggcctgaatggtgagcatggggattttgatactgggactcatc c.*900
. . . . . . g.24823
aggaaaggattctgctttcaaactatactgaacattcctgtcctagcgtccctgccacca c.*960
. . . . . . g.24883
ggcccaatgcatctgatccttgaatatactctcaaagaattcactctctttttattaaga c.*1020
. . . . . . g.24943
gaactaaattgtttctaaatgtagatggtccctctggaaaagcagttttcagcaggggtg c.*1080
. . . . . . g.25003
gtaaccccttcagagggagtttggaaatgtgtgggtatgattcttggttatcataatgat c.*1140
. . . . . . g.25063
gggggtgctactggccttctgctgccatgggaccaggatgctaaatgtcaaggtagtcct c.*1200
. . . . . . g.25123
atacagtgaagaattgtcctgctcaagatgccaggatttcccccagtgagaacatgctct c.*1260
. . . . . . g.25183
aaggaatgaccacccctttcttttattctcccacagtgctccatgtacagaagtaagcat c.*1320
. . . . . . g.25243
agcagtcatatgagcaaccacattcctgaacctttcctcatgctggctctacacttaatc c.*1380
. . . . . . g.25303
ctttacttgtatgtttctgtaattcttacataaattctattaagagggtggcatactgta c.*1440
. . . . . . g.25363
gtggatgaagctgaggcttatagtaggtaaggcacaaagttaaaaagtaacatcactggg c.*1500
. . . . . . g.25423
tttcaaacctactggtctctgtgactaaagaacactttcagaaccacttcttgattctgc c.*1560
. . . . . . g.25483
caccacttgatcccataacaggctaccccttggcctcatgctggagttgtgtgtgtctgt c.*1620
. . . . . . g.25543
cttcatcccaggctgagctccttgaggtgaggatgttgtgctgtttgcctccctcacagt c.*1680
. . . . . . g.25603
gccttggtcttagtggatgcccagttgtcttgtgaatgacttttaagaagtgtacttaag c.*1740
. . . . . . g.25663
agaaaaatcctaccttatttgaataattacaagtcatgtttttgttgcttaaaggtgata c.*1800
. . . . . . g.25723
aatcagtgtatattatttgttaatgtccattaaagccagtttttaaaaaaatcactggac c.*1860
. . . . . . g.25783
ttttgtgtttaccatttaaaacaaccattttaaacaaacttagaacgatgccttagctgt c.*1920
. . . . . . g.25843
ttataggtaacagaatgtaaactcccaccacctggagactaggccatatccagggacctc c.*1980
. . . . . . g.25903
acactgactttcctaaaggagagaagcagctacgctgttcatactgatagagaagagggc c.*2040
. . . . . . g.25963
aagaaaagatccagagtggctgttactttgaaaattaaacgaaagatgaaattctgaact c.*2100
. . . . . . g.26023
taaaacacttctgtttggccttctataactgatcacccttctttgctctgttttccagat c.*2160
. . . . . . g.26083
aaatggagacaccagatctccctaacctctgacttctgccgttagccatactctgtgtag c.*2220
. . . . . . g.26143
ttagatctcagtctgggaatggcattccagggcaattgtgaacatgaggctagatttttc c.*2280
. . . . . . g.26203
ctttgatttagcacattcctaggcagacttttgcaagctcaaaaaatgaaaataatatct c.*2340
. . . . . . g.26263
gcttaaccaaaacataatcataggaagaagaaaaattttaaaatgattgatttttgactc c.*2400
. . . . . . g.26323
tacattctttatctaccatactgctcttttcctttttagaaatattactaagcactttcc c.*2460
. . . . . . g.26383
gtatagataaatgaaatacaggctaatctttaggtgtcttaggaatttttgctttttgaa c.*2520
. . . . . . g.26443
aaagaaaagctaatagcctaactgcagaggaactgagtggatggggtagctgctgtatag c.*2580
. . . . . . g.26503
atttttagatgagatgatacagtgtggattacactgtaccttgggcgggagagtttgttc c.*2640
. . . . . . g.26563
ttgatatggaattcatatgcttttgaattgcactaataactcagcattaacaagtatatt c.*2700
. . . . . . g.26623
actccttaaattatacatgcattttcaatattcctaaccaaatagtttatagcttattga c.*2760
. . . . . . g.26683
gaagaagtctgttcttggagagatgttgaaattagatgtttattaaactttaaaatataa c.*2820
. . . . . . g.26743
tgccttaagctgtggcactttaaaaacatctttatatataaattgctaaaaggactgtta c.*2880
. . . . . . g.26803
atgcttttctcagacacattggcattttacaattttgcacatggtttatttgaaatcaaa c.*2940
. . . . . . g.26863
aaataactatactttgttttataagtctacctaatatctcatttttgattctcatcgtta c.*3000
. . . g.26897
gcacagttttgttgcttttattaaactattttaa c.*3034
(downstream sequence)
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