(used for variant description)
(last modified May 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000770.3 in the CYP2C8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007972.1, covering CYP2C8 transcript NM_000770.3.
(upstream sequence)
. . . g.5035
acatgtcaaagagacacacactaaattagcaggga c.-61
. . . . . . g.5095
gtgttataaaaactttggagtgcaagctcacagctgtcttaataagaagagaaggcttca c.-1
. . . . . . g.5155
ATGGAACCTTTTGTGGTCCTGGTGCTGTGTCTCTCTTTTATGCTTCTCTTTTCACTCTGG c.60
M E P F V V L V L C L S F M L L F S L W p.20
. . . . . . g.5215
AGACAGAGCTGTAGGAGAAGGAAGCTCCCTCCTGGCCCCACTCCTCTTCCTATTATTGGA c.120
R Q S C R R R K L P P G P T P L P I I G p.40
. . . . | 02 . g.6818
AATATGCTACAGATAGATGTTAAGGACATCTGCAAATCTTTCACCAAT | TTCTCAAAAGTC c.180
N M L Q I D V K D I C K S F T N | F S K V p.60
. . . . . . g.6878
TATGGTCCTGTGTTCACCGTGTATTTTGGCATGAATCCCATAGTGGTGTTTCATGGATAT c.240
Y G P V F T V Y F G M N P I V V F H G Y p.80
. . . . . . g.6938
GAGGCAGTGAAGGAAGCCCTGATTGATAATGGAGAGGAGTTTTCTGGAAGAGGCAATTCC c.300
E A V K E A L I D N G E E F S G R G N S p.100
. . . | 03 . . . g.7169
CCAATATCTCAAAGAATTACTAAAGGACTTG | GAATCATTTCCAGCAATGGAAAGAGATGG c.360
P I S Q R I T K G L G | I I S S N G K R W p.120
. . . . . . g.7229
AAGGAGATCCGGCGTTTCTCCCTCACAACCTTGCGGAATTTTGGGATGGGGAAGAGGAGC c.420
K E I R R F S L T T L R N F G M G K R S p.140
. . . . . . g.7289
ATTGAGGACCGTGTTCAAGAGGAAGCTCACTGCCTTGTGGAGGAGTTGAGAAAAACCAAG c.480
I E D R V Q E E A H C L V E E L R K T K p.160
| 04 . . . . . . g.9596
G | CTTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGATCTGCTCC c.540
A | S P C D P T F I L G C A P C N V I C S p.180
. . . . . . g.9656
GTTGTTTTCCAGAAACGATTTGATTATAAAGATCAGAATTTTCTCACCCTGATGAAAAGA c.600
V V F Q K R F D Y K D Q N F L T L M K R p.200
. . . . | 05 . . g.16004
TTCAATGAAAACTTCAGGATTCTGAACTCCCCATGGATCCAG | GTCTGCAATAATTTCCCT c.660
F N E N F R I L N S P W I Q | V C N N F P p.220
. . . . . . g.16064
CTACTCATTGATTGTTTCCCAGGAACTCACAACAAAGTGCTTAAAAATGTTGCTCTTACA c.720
L L I D C F P G T H N K V L K N V A L T p.240
. . . . . . g.16124
CGAAGTTACATTAGGGAGAAAGTAAAAGAACACCAAGCATCACTGGATGTTAACAATCCT c.780
R S Y I R E K V K E H Q A S L D V N N P p.260
. . . | 06 . . g.28567
CGGGACTTTATCGATTGCTTCCTGATCAAAATGGAGCAG | GAAAAGGACAACCAAAAGTCA c.840
R D F I D C F L I K M E Q | E K D N Q K S p.280
. . . . . . g.28627
GAATTCAATATTGAAAACTTGGTTGGCACTGTAGCTGATCTATTTGTTGCTGGAACAGAG c.900
E F N I E N L V G T V A D L F V A G T E p.300
. . . . . . g.28687
ACAACAAGCACCACTCTGAGATATGGACTCCTGCTCCTGCTGAAGCACCCAGAGGTCACA c.960
T T S T T L R Y G L L L L L K H P E V T p.320
| 07 . . . . . . g.31479
G | CTAAAGTCCAGGAAGAGATTGATCATGTAATTGGCAGACACAGGAGCCCCTGCATGCAG c.1020
A | K V Q E E I D H V I G R H R S P C M Q p.340
. . . . . . g.31539
GATAGGAGCCACATGCCTTACACTGATGCTGTAGTGCACGAGATCCAGAGATACAGTGAC c.1080
D R S H M P Y T D A V V H E I Q R Y S D p.360
. . . . . . g.31599
CTTGTCCCCACCGGTGTGCCCCATGCAGTGACCACTGATACTAAGTTCAGAAACTACCTC c.1140
L V P T G V P H A V T T D T K F R N Y L p.380
| 08 . . . . . g.35510
ATCCCCAAG | GGCACAACCATAATGGCATTACTGACTTCCGTGCTACATGATGACAAAGAA c.1200
I P K | G T T I M A L L T S V L H D D K E p.400
. . . . . . g.35570
TTTCCTAATCCAAATATCTTTGACCCTGGCCACTTTCTAGATAAGAATGGCAACTTTAAG c.1260
F P N P N I F D P G H F L D K N G N F K p.420
. . . | 09 . . . g.37217
AAAAGTGACTACTTCATGCCTTTCTCAGCAG | GAAAACGAATTTGTGCAGGAGAAGGACTT c.1320
K S D Y F M P F S A G | K R I C A G E G L p.440
. . . . . . g.37277
GCCCGCATGGAGCTATTTTTATTTCTAACCACAATTTTACAGAACTTTAACCTGAAATCT c.1380
A R M E L F L F L T T I L Q N F N L K S p.460
. . . . . . g.37337
GTTGATGATTTAAAGAACCTCAATACTACTGCAGTTACCAAAGGGATTGTTTCTCTGCCA c.1440
V D D L K N L N T T A V T K G I V S L P p.480
. . . g.37370
CCCTCATACCAGATCTGCTTCATCCCTGTCTGA c.1473
P S Y Q I C F I P V X p.490
. . . . . . g.37430
agaatgctagcccatctggctgccgatctgctatcacctgcaactctttttttatcaagg c.*60
. . . . . . g.37490
acattcccactattatgtcttctctgacctctcatcaaatcttcccattcactcaatatc c.*120
. . . . . . g.37550
ccataagcatccaaactccattaaggagagttgttcaggtcactgcacaaatatatctgc c.*180
. . . . . . g.37610
aattattcatactctgtaacacttgtattaattgctgcatatgctaatacttttctaatg c.*240
. . . . . . g.37670
ctgactttttaatatgttatcactgtaaaacacagaaaagtgattaatgaatgataattt c.*300
. . . . . g.37726
agatccatttcttttgtgaatgtgctaaataaaaagtgttattaattgctggttca c.*356
(downstream sequence)
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