(used for variant description)
(last modified December 20, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001360.2 in the DHCR7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012655.2, covering DHCR7 transcript NM_001360.2.
(upstream sequence)
. . . g.5033
aatcgctgacatcatccgggggcgggcgcccct c.-241
. . . . . . g.5093
gccctgcgggtgactccgacccctggctagagggtaggcggcgtggagcagcgcgcgcaa c.-181
. . . . . | 02 g.5708
gcgaggccaggggaaggtgggcgcaggtgaggggccgaggtgtgcgcag | gactttagccg c.-121
. . . . . . g.5768
gttgagaaggatcaagcaggcatttggagcacaggtgtctagaaacttttaaggggccgg c.-61
. . . . . . | 03 g.8479
ttcaagaaggaaaagttcccttctgctgtgaaactatttggcaagaggctggag | ggccca c.-1
. . . . . . g.8539
ATGGCTGCAAAATCGCAACCCAACATTCCCAAAGCCAAGAGTCTAGATGGCGTCACCAAT c.60
M A A K S Q P N I P K A K S L D G V T N p.20
. . . | 04 . . g.9238
GACAGAACCGCATCTCAAGGGCAGTGGGGCCGTGCCTG | GGAGGTGGACTGGTTTTCACTG c.120
D R T A S Q G Q W G R A W | E V D W F S L p.40
. . . . . . g.9298
GCGAGCGTCATCTTCCTACTGCTGTTCGCCCCCTTCATCGTCTACTACTTCATCATGGCT c.180
A S V I F L L L F A P F I V Y Y F I M A p.60
. . . . . . g.9358
TGTGACCAGTACAGCTGCGCCCTGACTGGCCCTGTGGTGGACATCGTCACCGGACATGCT c.240
C D Q Y S C A L T G P V V D I V T G H A p.80
. . . . . . g.9418
CGGCTCTCGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTAT c.300
R L S D I W A K T P P I T R K A A Q L Y p.100
. . | 05 . . . . g.11117
ACCTTGTGGGTCACCTTCCAG | GTGCTTCTGTACACGTCTCTCCCTGACTTCTGCCATAAG c.360
T L W V T F Q | V L L Y T S L P D F C H K p.120
. . . . . | 06 . g.11999
TTTCTACCCGGCTACGTAGGAGGCATCCAGGAGGGGGCCGTGACTCCTGCAG | GGGTTGTG c.420
F L P G Y V G G I Q E G A V T P A G | V V p.140
. . . . . . g.12059
AACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCA c.480
N K Y Q I N G L Q A W L L T H L L W F A p.160
. . . . . . g.12119
AACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGACAACTGGATCCCACTG c.540
N A H L L S W F S P T I I F D N W I P L p.180
. . . . . . g.12179
CTGTGGTGCGCCAACATCCTTGGCTATGCCGTCTCCACCTTCGCCATGGTCAAGGGCTAC c.600
L W C A N I L G Y A V S T F A M V K G Y p.200
. . | 07 . . . . g.14382
TTCTTCCCCACCAGCGCCAGAGACTG | CAAATTCACAGGCAATTTCTTTTACAACTACATG c.660
F F P T S A R D C | K F T G N F F Y N Y M p.220
. . . . . . g.14442
ATGGGCATCGAGTTTAACCCTCGGATCGGGAAGTGGTTTGACTTCAAGCTGTTCTTCAAT c.720
M G I E F N P R I G K W F D F K L F F N p.240
. . . . . . g.14502
GGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGCGAAGCAGCGG c.780
G R P G I V A W T L I N L S F A A K Q R p.260
. . . . . | 08 . g.15497
GAGCTCCACAGCCATGTGACCAATGCCATGGTCCTGGTCAACGTCCTGCAG | GCCATCTAC c.840
E L H S H V T N A M V L V N V L Q | A I Y p.280
. . . . . . g.15557
GTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCATGAC c.900
V I D F F W N E T W Y L K T I D I C H D p.300
. . . . . . g.15617
CACTTCGGGTGGTACCTGGGCTGGGGCGACTGTGTCTGGCTGCCTTATCTTTACACGCTG c.960
H F G W Y L G W G D C V W L P Y L Y T L p.320
| 09 . . . . . . g.17649
CAG | GGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCACCCCGCACGCCGTGGGCGTC c.1020
Q | G L Y L V Y H P V Q L S T P H A V G V p.340
. . . . . . g.17709
CTGCTGCTGGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCTG c.1080
L L L G L V G Y Y I F R V A N H Q K D L p.360
. . . . . . g.17769
TTCCGCCGCACGGATGGGCGCTGCCTCATCTGGGGCAGGAAGCCCAAGGTCATCGAGTGC c.1140
F R R T D G R C L I W G R K P K V I E C p.380
. . . . . . g.17829
TCCTACACATCCGCCGATGGGCAGAGGCACCACAGCAAGCTGCTGGTGTCGGGCTTCTGG c.1200
S Y T S A D G Q R H H S K L L V S G F W p.400
. . . . . . g.17889
GGCGTGGCCCGCCACTTCAACTACGTCGGCGACCTGATGGGCAGCCTGGCCTACTGCCTG c.1260
G V A R H F N Y V G D L M G S L A Y C L p.420
. . . . . . g.17949
GCCTGTGGCGGCGGCCACCTGCTGCCCTACTTCTACATCATCTACATGGCCATCCTGCTG c.1320
A C G G G H L L P Y F Y I I Y M A I L L p.440
. . . . . . g.18009
ACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAGTACGGCCGGGACTGGGAG c.1380
T H R C L R D E H R C A S K Y G R D W E p.460
. . . . g.18057
CGCTACACCGCCGCAGTGCCTTACCGCCTGCTGCCTGGAATCTTCTAA c.1428
R Y T A A V P Y R L L P G I F X p.475
. . . . . . g.18117
gggcacgccctagggagaagccctgtggggctgtcaagagcgtgttctgccaggtccatg c.*60
. . . . . . g.18177
ggggctggcatcccagctccaactcgaggagcctcagtttcctcatctgtaaactggaga c.*120
. . . . . . g.18237
gagcccagcacttggcaggtgtccagtacctaatcacgctctgttccttgcttttgcctt c.*180
. . . . . . g.18297
caagggaattccgagtgtccagcactgccgtattgccagcacagacggattttctctaat c.*240
. . . . . . g.18357
cagtgtccctggggcaggaggatgacccagtcacctttactagtcctttggagacaattt c.*300
. . . . . . g.18417
acctgtattaggagcccaggccacgctacactctgcccacactggtgagcaggaggtctt c.*360
. . . . . . g.18477
cccacgccctgtcattaggctgcatttactcttgctaaataaaagtgggagtggggcgtg c.*420
. . . . . . g.18537
cgcgttatccatgtattgcctttcagctctagatccccctcccctgcctgctctgcagtc c.*480
. . . . . . g.18597
gtgggtggggcccgtgcgccgtttctccttggtagcgtgcacggtgttgaactgggacac c.*540
. . . . . . g.18657
tggggagaaaggggctttcatgtcgtttccttcctgctcctgctgcacagctgccaggag c.*600
. . . . . . g.18717
tgctctgcctggagtctgcagacctcagagaggtcccagcaccggctgtggcctttcagg c.*660
. . . . . . g.18777
tgtaggcaggtgggctctgcttcccgattccctgtgagcgcccaccctctcgaaagaatt c.*720
. . . . . . g.18837
ttctgcttgccctatgactgtgcagactctggctcgagcaacccggggaacttcaccctc c.*780
. . . . . . g.18897
aggggcctcccacaccttctccagcgaggaggtctcagtcccagcctcgggagggcacct c.*840
. . . . . . g.18957
ccttttctgtgctttcttccctgaggcattcttcctcatccctagggtgttgtgtagaac c.*900
. . . . . . g.19017
tctttttaaactctatgctccgagtagagttcatctttatattaaacttcccctgttcaa c.*960
g.19021
ataa c.*964
(downstream sequence)
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