(used for variant description)
(last modified July 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002936.3 in the RNASEH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering RNASEH1 transcript NM_002936.3.
(upstream sequence)
. . . g.5030
gccggtgacggaagtgcggtgttgagcgcc c.-61
. . . . . . g.5090
ggcggctcgcgcccacgctgggccgggagtcgaaatgcttcccggtgccgggagtgagcg c.-1
. . . . . . g.5150
ATGAGCTGGCTTCTGTTCCTGGCCCACAGAGTCGCCTTGGCCGCCTTGCCCTGCCGCCGC c.60
M S W L L F L A H R V A L A A L P C R R p.20
. . . . . . g.5210
GGCTCTCGCGGGTTCGGGATGTTCTATGCCGTGAGGAGGGGCCGCAAGACCGGGGTCTTT c.120
G S R G F G M F Y A V R R G R K T G V F p.40
| 02 . . . . . g.6498
CTGACCTG | GAATGAGTGCAGAGCACAGGTGGACCGGTTTCCTGCTGCCAGATTTAAGAAG c.180
L T W | N E C R A Q V D R F P A A R F K K p.60
. . . . . . g.6558
TTTGCCACAGAGGATGAGGCCTGGGCCTTTGTCAGGAAATCTGCAAGCCCGGAAGTTTCA c.240
F A T E D E A W A F V R K S A S P E V S p.80
| 03 . . . . . . g.11098
GAAG | GGCATGAAAATCAACATGGACAAGAATCGGAGGCGAAAGCCAGCAAGCGACTCCGT c.300
E G | H E N Q H G Q E S E A K A S K R L R p.100
. . . . . . g.11158
GAGCCACTGGATGGAGATGGACATGAAAGCGCAGAGCCGTATGCAAAGCACATGAAGCCG c.360
E P L D G D G H E S A E P Y A K H M K P p.120
. . . . | 04 . g.12889
AGCGTGGAGCCGGCGCCTCCAGTTAGCAGAGACACGTTTTCCTACATGG | GAGACTTCGTC c.420
S V E P A P P V S R D T F S Y M G | D F V p.140
. . . . . . g.12949
GTCGTCTACACTGATGGCTGCTGCTCCAGTAATGGGCGTAGAAGGCCGCGAGCAGGAATC c.480
V V Y T D G C C S S N G R R R P R A G I p.160
. . | 05 . . . g.14269
GGCGTTTACTGGGGGCCAGGCCATCCTTT | AAATGTAGGCATTAGACTTCCTGGGCGGCAG c.540
G V Y W G P G H P L | N V G I R L P G R Q p.180
. . | 06 . . . . g.14662
ACAAACCAAAGAGCGGAAATTCAT | GCAGCCTGCAAAGCCATTGAACAAGCAAAGACTCAA c.600
T N Q R A E I H | A A C K A I E Q A K T Q p.200
. . . . | 07 . g.15306
AACATCAATAAACTGGTTCTGTATACAGACAGTATGTTTACGATAAATG | GTATAACTAAC c.660
N I N K L V L Y T D S M F T I N G | I T N p.220
. . . . . . g.15366
TGGGTTCAAGGTTGGAAGAAAAATGGGTGGAAGACAAGTGCAGGGAAAGAGGTGATCAAC c.720
W V Q G W K K N G W K T S A G K E V I N p.240
. . . . . | 08 . g.17485
AAAGAGGACTTTGTGGCACTGGAGAGGCTTACCCAGGGGATGGACATTCAGTGG | ATGCAT c.780
K E D F V A L E R L T Q G M D I Q W | M H p.260
. . . . . . g.17545
GTTCCTGGTCATTCGGGATTTATAGGCAATGAAGAAGCTGACAGATTAGCCAGAGAAGGA c.840
V P G H S G F I G N E E A D R L A R E G p.280
. . g.17566
GCTAAACAATCGGAAGACTGA c.861
A K Q S E D X p.286
. . . . . . g.17626
gccatgtgactttagtccttgggagaacttgagccagcggctgtcttgctgcctgtactt c.*60
. . . . . . g.17686
actggtgtggaaaatagcctgcaggtaggaccattgcagtgatgggcagatgcgtctttc c.*120
. . . . . . g.17746
acacggaatcaggcacagtggccttctgtgacatgtgtttataaaaaatggttaagtata c.*180
. . . . . . g.17806
taataaattgaacatctttgagattggagaattatgtgagatttccacattatgtttact c.*240
. . . . . . g.17866
gggttcaatactgtccttgcttgttttattgcaggcaagcaaggcaaatggcctaaaatg c.*300
. . . . . . g.17926
ctgtggcttatattttgataagaaatcaaaaaaccattggttaaaagatgcaactcagaa c.*360
. . . . . . g.17986
gtctggaagtattctgaaagcatccatttaccgtccagttgacaggtttgagtctcctgc c.*420
. . . . . . g.18046
ttgtataggtgacttgtgcccatgggtacattaaaggaacatgctgcccagggcctgggc c.*480
. . . . . . g.18106
ggacagctcagtgggcaggatgtgtgctgggtctcagccccatgtgcctgcttgctgggc c.*540
. . . . . . g.18166
agttagtatagggcaaagcctgcctgcggcgaccctggctgctaggccattctctaggaa c.*600
. . . . . . g.18226
cagctgcgactcataaagaccaagaagcataaataaactttcaaaaatttatttggctct c.*660
. . . g.18263
ttcgttaaaaactgtgcaaattaaaaaaaaaaaaaaa c.*697
(downstream sequence)
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