(used for variant description)
(last modified August 1, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_017807.3 in the OSGEP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering OSGEP transcript NM_017807.3.
(upstream sequence)
g.5005
agcct c.-421
. . . . . . g.5065
cgcctccctcctctaattctctaggacacttaggtccccaaccctccctcgggctgttta c.-361
. . . . . . g.5125
tcgttgtgccagatgcacagcacattgtgtgacactgacttaagattctaactatgtgca c.-301
. . . . . . g.5185
agagggaaaaaaacagtggagaaggctgggctggaccacgggaaagagataggaaaacgg c.-241
. . . . . . g.5245
atacgaatgtaaggcacagagttggctcggcgtccctggcagttaggaagacaggtccct c.-181
. . . . . . g.5305
ggaggggccttggcgggtctccgctcgcgggagttccgcggtgtctttcccagtgctatc c.-121
. . . . . . g.5365
tgcaggctggccagcttcctctgcgctccggaaagctgcggcccagcgcggactagtgag c.-61
. . . . . . g.5425
gacctccacagctcctgacattgccaggagtcctgtcggcgttttctcccagcctccgcc c.-1
. . . . . . g.5485
ATGCCGGCGGTGCTGGGTTTTGAAGGCAGCGCCAATAAGATTGGCGTGGGCGTGGTGCGG c.60
M P A V L G F E G S A N K I G V G V V R p.20
. . . . . | 02 . g.7665
GATGGCAAGGTGCTGGCGAACCCGCGGCGGACTTACGTCACGCCTCCTGGCACAG | GATTC c.120
D G K V L A N P R R T Y V T P P G T G | F p.40
. . . . . . g.7725
CTTCCAGGTGATACAGCCAGGCATCACCGAGCTGTTATCCTAGACCTGCTGCAGGAGGCA c.180
L P G D T A R H H R A V I L D L L Q E A p.60
. . . . . | 03 . g.7964
CTAACAGAGTCTGGATTAACCTCCCAGGATATCGACTGCATTGCATACACCAAGG | GCCCT c.240
L T E S G L T S Q D I D C I A Y T K G | P p.80
. . . . . . g.8024
GGCATGGGTGCCCCACTGGTTTCTGTGGCTGTTGTGGCCCGTACTGTGGCCCAACTGTGG c.300
G M G A P L V S V A V V A R T V A Q L W p.100
. . . . . . g.8084
AATAAGCCATTGGTGGGTGTGAACCACTGTATAGGCCACATTGAGATGGGCCGCCTCATC c.360
N K P L V G V N H C I G H I E M G R L I p.120
. . . . . | 04 . g.10851
ACTGGAGCCACCAGCCCAACCGTGTTGTATGTGAGTGGAGGAAATACGCAG | GTGATTGCA c.420
T G A T S P T V L Y V S G G N T Q | V I A p.140
. . . . . . g.10911
TACTCGGAACATCGTTACCGTATCTTTGGGGAAACCATCGATATTGCAGTGGGTAATTGT c.480
Y S E H R Y R I F G E T I D I A V G N C p.160
. . | 05. . . . g.11128
CTGGATCGTTTTGCTCGAGTGCTGAAG | ATTTCTAACGACCCAAGTCCAGGATACAACATT c.540
L D R F A R V L K | I S N D P S P G Y N I p.180
. | 06. . . . . g.11340
GAACAGATGGCAAAGCG | AGGCAAGAAGCTAGTTGAGCTGCCATACACTGTAAAGGGGATG c.600
E Q M A K R | G K K L V E L P Y T V K G M p.200
. . . | 07 . . . g.11961
GACGTCTCATTCTCAGGGATCCTGTCTTTCATTGAG | GATGTAGCCCATCGGATGCTGGCC c.660
D V S F S G I L S F I E | D V A H R M L A p.220
. . . . | 08 . . g.12132
ACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAG | GAAACTGTGTTTGCAATG c.720
T G E C T P E D L C F S L Q | E T V F A M p.240
. . . . . . g.12192
CTGGTAGAGATCACAGAGCGAGCCATGGCACATTGTGGCTCCCAGGAGGCCCTCATTGTG c.780
L V E I T E R A M A H C G S Q E A L I V p.260
. | 09 . . . . . g.12465
GGAGGAGTGGGGT | GTAATGTGAGGCTACAGGAGATGATGGCAACAATGTGCCAGGAACGT c.840
G G V G C | N V R L Q E M M A T M C Q E R p.280
. . | 10 . . . g.12619
GGAGCCCGGCTTTTTGCTACAGATGAGAG | ATTCTGTATTGACAATGGAGCGATGATAGCC c.900
G A R L F A T D E R | F C I D N G A M I A p.300
. . . . . . g.12679
CAGGCTGGCTGGGAGATGTTTCGGGCTGGACACAGGACCCCACTCAGTGATTCTGGGGTT c.960
Q A G W E M F R A G H R T P L S D S G V p.320
| 11 . . . g.12881
ACACAGAG | GTATCGGACAGATGAAGTAGAGGTGACCTGGAGGGACTAA c.1008
T Q R | Y R T D E V E V T W R D X p.335
. . . . . . g.12941
taagatcaacagaatcagagtagatagttccttaatcggaacccaaaggaccccgtgcct c.*60
. . . . . . g.13001
caatctctatcctgatgtcatgggagtcctagcaaagctatagactccaagcaaggcttg c.*120
. . . . . . g.13061
gggtcctttatggaaccccaggatgactcagcaataaaatatttttggttttttggtttt c.*180
. g.13073
gtatgttggtga c.*192
(downstream sequence)
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