(used for variant description)
(last modified November 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_145177.2 in the DHRSX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000024.9, covering DHRSX transcript NM_145177.2.
(upstream sequence)
. . . . g.5049
agagtcccgcgggcggcgcggaagcggcggcggcgcggccggggcagcc c.-1
. . . . . . g.5109
ATGTCGCCATTGTCTGCGGCGCGGGCGGCCCTGCGGGTCTACGCGGTAGGCGCCGCGGTG c.60
M S P L S A A R A A L R V Y A V G A A V p.20
. . . . | 02 . g.80681
ATCCTGGCGCAGCTGCTGCGGCGCTGCCGCGGGGGCTTCCTGGAGCCAG | TTTTCCCCCCA c.120
I L A Q L L R R C R G G F L E P V | F P P p.40
. . . . . . g.80741
CGACCTGACCGTGTCGCTATAGTGACGGGAGGGACAGATGGCATTGGCTATTCTACAGCG c.180
R P D R V A I V T G G T D G I G Y S T A p.60
. . . | 03. . . g.97184
AAGCATCTGGCGAGACTTGGCATGCATGTTATCATAG | CTGGAAATAATGACAGCAAAGCC c.240
K H L A R L G M H V I I A | G N N D S K A p.80
. . . . | 04 . . g.214385
AAACAAGTTGTAAGCAAAATAAAAGAAGAAACCTTGAACGACAAAG | TGGAATTTTTATAC c.300
K Q V V S K I K E E T L N D K V | E F L Y p.100
. . . . . . g.214445
TGTGACTTGGCTTCCATGACTTCCATCCGGCAGTTTGTGCAGAAGTTCAAGATGAAGAAG c.360
C D L A S M T S I R Q F V Q K F K M K K p.120
. . | 05 . . . g.239059
ATTCCTCTCCATGTCCTGATCAACAATG | CTGGGGTGATGATGGTCCCTCAGAGGAAAACC c.420
I P L H V L I N N A | G V M M V P Q R K T p.140
. . . . . . g.239119
AGAGATGGATTCGAAGAACATTTCGGCCTGAACTACCTAGGGCACTTCCTGCTGACCAAC c.480
R D G F E E H F G L N Y L G H F L L T N p.160
. . . . . . g.239179
CTTCTCTTGGATACGCTGAAAGAGTCTGGGTCCCCTGGCCACAGTGCGAGGGTGGTCACC c.540
L L L D T L K E S G S P G H S A R V V T p.180
. . . . . | 06 . g.262748
GTCTCCTCTGCCACCCATTACGTCGCTGAGCTGAACATGGATGACCTTCAGAGCAG | TGCC c.600
V S S A T H Y V A E L N M D D L Q S S | A p.200
. . . . . . g.262808
TGCTACTCACCCCACGCAGCCTACGCCCAGAGCAAGCTGGCCCTTGTCCTGTTCACCTAC c.660
C Y S P H A A Y A Q S K L A L V L F T Y p.220
. . . . . . g.262868
CACCTCCAGCGGCTGCTGGCGGCTGAGGGAAGCCACGTGACCGCCAACGTGGTGGACCCC c.720
H L Q R L L A A E G S H V T A N V V D P p.240
. . . . . . g.262928
GGGGTGGTCAACACGGACGTCTACAAGCACGTGTTCTGGGCCACCCGTCTGGCGAAGAAG c.780
G V V N T D V Y K H V F W A T R L A K K p.260
. . | 07 . . . . g.284781
CTTCTCGGCTGGTTGCTTTTCAAG | ACCCCCGATGAAGGAGCGTGGACTTCCATCTACGCA c.840
L L G W L L F K | T P D E G A W T S I Y A p.280
. . . . . . g.284841
GCAGTCACCCCAGAGCTGGAAGGAGTTGGTGGCCATTACCTATACAACGAGAAAGAGACC c.900
A V T P E L E G V G G H Y L Y N E K E T p.300
. . . . . . g.284901
AAGTCCCTCCACGTCACCTACAACCAGAAACTGCAGCAGCAGCTGTGGTCTAAGAGTTGT c.960
K S L H V T Y N Q K L Q Q Q L W S K S C p.320
. . . g.284934
GAGATGACTGGGGTCCTTGATGTGACCCTGTGA c.993
E M T G V L D V T L X p.330
. . . . . . g.284994
tatcctgtctcaggatagctgctgccccaagaaacacattgcacctgccaatagcttgtg c.*60
. . . . . . g.285054
ggtctgtgaagactgcggtgtttgagtttctcacacccacctgcccacagggctctgtcc c.*120
. . . . . . g.285114
tctagttttgagacagctgcctcaacctctgcagaacttcaagaagccaaataaacattt c.*180
. . . . . . g.285174
tggaggataatcaccccaagtggtcttcaaccataaactttgtgattccaaagtgcccag c.*240
. . . . . . g.285234
ttgtcacaggtgccataaataattacattttccaacataaatgtgccattttccttgccg c.*300
. . . . . . g.285294
cgttaatacaactgagtacaaaagttccaagagagatgctctcttttcaggggctgcaat c.*360
. . . . . . g.285354
gtcctctctgagacctagtggtggatgaggtctcctgtttgattttgttcctgcactcac c.*420
. . . . . . g.285414
tcatttttccagagacccagctgtgattcacaggtgtcagacatggggaggtgtgagcct c.*480
. . . . . . g.285474
tgcttgctacagcctgtaggatgagtttgacgtggccagcagcaccatctggtcaacctc c.*540
. . . . . . g.285534
attccagaatggcacagtcacaagtgaagcatgccactgtcaaatccgagaatgtaaacc c.*600
. . . . . . g.285594
gctgaacagctatggatcaaatggtagccctcaaaagatatgttcatgccctaaccctca c.*660
. . . . . . g.285654
gaacctataaatattactttatttggaaaagaatctttgcagatagaattaagaattttg c.*720
. . . . . . g.285714
agatgggtcattatggatcatcccagtgaacctaatgccatcacgagggttcttatcaga c.*780
. . . . . . g.285774
gacaggtagagggagatttgagtacagaagacaagatattcgtgtgatgatgcagacaga c.*840
. . . . . . g.285834
gactggagtgatgccaccacaagccaagcaatgcctggagccaccaggagctgggacagg c.*900
. . . . . . g.285894
caggaaggattctcccttatacccctcagagcaatcttggcccctctgacgtcttgactt c.*960
. . . . . . g.285954
tagacttctggtccccagaacggagagagaataaatctttcttgttttaaggctccaaca c.*1020
. . . . . . g.286014
aattggtagtcacttgttacagcaaccacaggaaatgtatacagcttctgatacttctga c.*1080
. . . . . . g.286074
aaacctcacacagccaaagggtacatccttggtatagaggctcactcttactcaccagcc c.*1140
. . . . . . g.286134
aggcaaggaaggctcaatcctttggtgttagagagatagatgttgggttttcaaatttca c.*1200
. . . . . . g.286194
acatagagaaatcagtcatttgcaatgcttttgagaaagtactgtgtataccctacgagc c.*1260
. . . . . . g.286254
ctgcactccttatgtgtgagactgatgaccattggttggcttattatccattccactaag c.*1320
. . . . . . g.286314
tgacaaaatcccactgactattcaaatccaggctcctggcatgcctgtaccttagaatca c.*1380
. . . . . . g.286374
caaccagctgcaattccaggatggagttcaaactaattgtgggggcatgtgcttcttaca c.*1440
. . . . . . g.286434
tgactgctagattgttcccagatggggaaggttgccctgataagcaacttaaatgaaaat c.*1500
. . . g.286469
aataaatgtattgtttggcctctttaaaaaaaaaa c.*1535
(downstream sequence)
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