(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_152443.2 in the RDH12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008321.1, covering RDH12 transcript NM_152443.2.
(upstream sequence)
. . g.5024
gggcacaagcaatcctcccttctc c.-301
. . . | 02 . . . g.23996
agcttcctgagtggccaggactacag | aggactgtatgctgttcttaaggactctctgctt c.-241
. . . | 03 . . . g.25577
cctggacaagctcaagctaag | gactacatctcccagcaggctgtgctctgacagctcttg c.-181
. . . . . . g.25637
gatttaaataggattctgggctctgctcagagtcaggctgctgctcagcacccaggacgg c.-121
. . . . . . g.25697
agaggagcagagaagcagcagaagcagccaagagctggagccagaccaggaacctgagcc c.-61
. . . . . . g.25757
agagctggggttgaagctggagcagcagcaaaagcaacagcagctacagaagttggaacg c.-1
. . . . . . g.25817
ATGCTGGTCACCTTGGGACTGCTCACCTCCTTCTTCTCGTTCCTGTATATGGTAGCTCCA c.60
M L V T L G L L T S F F S F L Y M V A P p.20
| 04 . . . . . g.27639
TCCATCAG | GAAGTTCTTTGCTGGTGGAGTGTGTAGAACAAATGTGCAGCTTCCTGGCAAG c.120
S I R | K F F A G G V C R T N V Q L P G K p.40
. . . . . . g.27699
GTAGTGGTGATCACTGGCGCCAACACGGGCATTGGCAAGGAGACGGCCAGAGAGCTCGCT c.180
V V V I T G A N T G I G K E T A R E L A p.60
| 05. . . . . . g.28266
AGCCGAG | GAGCCCGAGTCTATATTGCCTGCAGAGATGTACTGAAGGGGGAGTCTGCTGCC c.240
S R G | A R V Y I A C R D V L K G E S A A p.80
. . . . . . g.28326
AGTGAAATCCGAGTGGATACAAAGAACTCCCAGGTGCTGGTGCGGAAATTGGACCTATCC c.300
S E I R V D T K N S Q V L V R K L D L S p.100
. . . . | 06 . . g.29182
GACACCAAATCTATCCGAGCCTTTGCTGAGGGCTTTCTGGCAG | AGGAAAAGCAGCTCCAT c.360
D T K S I R A F A E G F L A E | E K Q L H p.120
. . . . . . g.29242
ATTCTGATCAACAATGCGGGAGTAATGATGTGTCCATATTCCAAGACAGCTGATGGCTTT c.420
I L I N N A G V M M C P Y S K T A D G F p.140
. . | 07 . . . g.30127
GAAACCCACCTGGGAGTCAACCACCTGG | GCCACTTCCTCCTCACCTACCTGCTCCTGGAG c.480
E T H L G V N H L G | H F L L T Y L L L E p.160
. . . . . . g.30187
CGGCTAAAGGTGTCTGCCCCTGCACGGGTGGTTAATGTGTCCTCGGTGGCTCACCACATT c.540
R L K V S A P A R V V N V S S V A H H I p.180
. . . . . . g.30247
GGCAAGATTCCCTTCCACGACCTCCAGAGCGAGAAGCGCTACAGCAGGGGTTTTGCCTAT c.600
G K I P F H D L Q S E K R Y S R G F A Y p.200
. . . . . | 08 g.32307
TGCCACAGCAAGCTGGCCAATGTGCTTTTTACTCGTGAGCTGGCCAAGAGGCTCCAAG | GC c.660
C H S K L A N V L F T R E L A K R L Q G | p.220
. . . . . . g.32367
ACCGGGGTCACCACCTACGCAGTGCACCCAGGCGTCGTCCGCTCTGAGCTGGTCCGGCAC c.720
T G V T T Y A V H P G V V R S E L V R H p.240
. . . . . . g.32427
TCCTCCCTGCTCTGCCTGCTCTGGCGGCTCTTCTCCCCCTTTGTCAAGACGGCACGGGAG c.780
S S L L C L L W R L F S P F V K T A R E p.260
. . . . . . g.32487
GGGGCGCAGACCAGCCTGCACTGCGCCCTGGCTGAGGGCCTGGAGCCCCTGAGTGGCAAG c.840
G A Q T S L H C A L A E G L E P L S G K p.280
| 09 . . . . . g.36912
TACTTCAG | TGACTGCAAGAGGACCTGGGTGTCTCCAAGGGCCCGAAATAACAAAACAGCT c.900
Y F S | D C K R T W V S P R A R N N K T A p.300
. . . . . g.36963
GAGCGCCTATGGAATGTCAGCTGTGAGCTTCTAGGAATCCGGTGGGAGTAG c.951
E R L W N V S C E L L G I R W E X p.316
. . . . . . g.37023
ctggtggaagagctgcagctttatcaggcccaatccatgccataatgaacagggaccaag c.*60
. . . . . . g.37083
gagaaggccaaccctaaaggattgtcctcttggccagctggtgctgcgaatcctgcctgc c.*120
. . . . . . g.37143
tctgatcctcttgacccttctgggaatgtttgcacacctgacactcttgtgagactggct c.*180
. . . . . . g.37203
tatggcatgagttgtggacacctatagagtgttcttctctaagacctggaaagtcagcaa c.*240
. . . . . . g.37263
ccctctgggggcagcaggactgggcagatcccaggctgggcatgggggtggcagaagagc c.*300
. . . . . . g.37323
ccgagaaattgggtcagttccctcatcagcaccagaggctcagctgaggcaagaagagca c.*360
. . . . . . g.37383
ccatcactgcctatttctaggggctatacactccaactcttggttgatctctttcttttt c.*420
. . . . . . g.37443
aaaaatatttgccaccaccctggagtctagaccaacacacaaagatcctggctaaccctg c.*480
. . . . . . g.37503
gcctatttagattccttcctctcacctggaccttcccatttcaatcatgcagatggtttc c.*540
. . . . . . g.37563
tttttgtaaagagttccgtttgcctttcaatttttagagaaaataaagactgcattcatc c.*600
g.37566
tca c.*603
(downstream sequence)
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