(used for variant description)
(last modified October 24, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_018013.3 in the SOBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering SOBP transcript NM_018013.3.
(upstream sequence)
. . g.5024
gcgcgctctcccgggctcacacac c.-481
. . . . . . g.5084
agccgcgcacgcacgcccggggccgctctccgcgccggcccttgctccccgcgcccatgc c.-421
. . . . . . g.5144
ggacggaccgagcgacggaagatggctgacgactccacggggccccgaggatgcggcccg c.-361
. . . . . . g.5204
gcggcggcggcggcgggagcggcagcggcagcgagggcggcaggggcagcggcagcagcg c.-301
. . . . . . g.5264
gcggcgttggctgcggcggcggcggcggcggcagcaggagccggagcgacggcggcggca c.-241
. . . . . . g.5324
tccccgagactctccgcactatccttacccgtgacagccactgacgtcctccgccgctag c.-181
. . . . . . g.5384
aagagaccccgcttctcggcgcctgccctccccctcgcggctcggtccggccccgccagc c.-121
. . . . . . g.5444
accgctacctccgccagcctcgccaccatcagcaccacctccaccgccgccgccgccgcc c.-61
. . . . . . g.5504
accaccaccgccggcggcggcagcagccatttcatctccacagaaaccagacacaaaaac c.-1
. . . . . . g.5564
ATGGCAGAAATGGAGAAAGAAGGGAGACCTCCCGAAAATAAACGGAGCAGGAAGCCGGCT c.60
M A E M E K E G R P P E N K R S R K P A p.20
. . . | 02 . . . g.18568
CACCCAGTGAAAAGGGAGATCAATGAGGAGATGAAG | AACTTTGCAGAAAACACCATGAAT c.120
H P V K R E I N E E M K | N F A E N T M N p.40
. . . . . . g.18628
GAACTCCTTGGCTGGTATGGCTATGATAAGGTTGAATTAAAAGATGGTGAGGATATTGAA c.180
E L L G W Y G Y D K V E L K D G E D I E p.60
. . . . . | 03 . g.21134
TTCAGGAGCTACCCTACAGATGGGGAGAGCCGGCAGCACATTTCTGTTCTCAAAG | AAAAT c.240
F R S Y P T D G E S R Q H I S V L K E | N p.80
. . . . . . g.21194
TCTTTGCCAAAACCAAAATTACCCGAGGACAGTGTTATTTCACCATACAATATAAGCACA c.300
S L P K P K L P E D S V I S P Y N I S T p.100
. . . . . . g.21254
GGCTATTCAGGGCTTGCCACTGGAAATGGACTCAGTGACTCACCTGCAGGGTCAAAGGAT c.360
G Y S G L A T G N G L S D S P A G S K D p.120
. . . . . . g.21314
CATGGCAGTGTGCCCATTATTGTACCTTTAATTCCACCACCTTTCATAAAGCCACCAGCA c.420
H G S V P I I V P L I P P P F I K P P A p.140
| 04 . . . . . . g.48405
G | AAGATGATGTGTCAAATGTACAAATAATGTGTGCCTGGTGCCAGAAAGTGGGAATCAAG c.480
E | D D V S N V Q I M C A W C Q K V G I K p.160
. . . . . . g.48465
CGCTATTCCCTGAGTATGGGAAGTGAGGTGAAAAGCTTCTGCAGCGAGAAGTGCTTTGCG c.540
R Y S L S M G S E V K S F C S E K C F A p.180
. . . | 05 . . . g.101994
GCCTGCCGACGAGCCTACTTCAAGAGAAATAAG | GCTAGAGATGAAGATGGACATGCTGAA c.600
A C R R A Y F K R N K | A R D E D G H A E p.200
. . . . . . g.102054
AATTTTCCCCAGCAGCACTATGCTAAGGAAACTCCAAGGCTTGCCTTCAAGAATAACTGC c.660
N F P Q Q H Y A K E T P R L A F K N N C p.220
| 06 . . . . . g.148452
GAACTACTT | GTATGTGACTGGTGTAAGCACATAAGACACACAAAAGAATACCTGGATTTT c.720
E L L | V C D W C K H I R H T K E Y L D F p.240
. . . . . . g.148512
GGGGACGGGGAAAGAAGGCTTCAGTTCTGCAGTGCAAAATGTCTCAATCAATACAAAATG c.780
G D G E R R L Q F C S A K C L N Q Y K M p.260
. . . . . . g.148572
GACATTTTCTACAAAGAGACCCAGGCCAATCTTCCAGCTGGGCTGTGCAGCACATTACAC c.840
D I F Y K E T Q A N L P A G L C S T L H p.280
. . . . . . g.148632
CCTCCCATGGAAAATAAAGCAGAAGGCACCGGGGTGCAGCTGCTCACTCCAGACTCTTGG c.900
P P M E N K A E G T G V Q L L T P D S W p.300
. . . . . . g.148692
AATATCCCGCTAACAGATGCTCGGAGGAAGGCCCCCTCCCCGGTGGCTACAGCTGGCCAA c.960
N I P L T D A R R K A P S P V A T A G Q p.320
. . . . . . g.148752
AGCCAGGGCCCTGGCCCGTCGGCGTCCACCACCGTCTCTCCATCTGACACTGCCAACTGC c.1020
S Q G P G P S A S T T V S P S D T A N C p.340
. . . . . . g.148812
TCTGTCACTAAAATCCCCACGCCAGTGCCCAAGTCCATCCCCATCAGCGAGACTCCAAAT c.1080
S V T K I P T P V P K S I P I S E T P N p.360
. . . . . . g.148872
ATCCCTCCTGTCTCCGTCCAGCCACCTGCTAGCATCGGGCCTCCCCTTGGCGTCCCGCCT c.1140
I P P V S V Q P P A S I G P P L G V P P p.380
. . . . . . g.148932
CGGAGCCCTCCCATGGTGATGACCAACCGCGGCCCGGTGCCGCTGCCCATCTTCATGGAG c.1200
R S P P M V M T N R G P V P L P I F M E p.400
. . . . . . g.148992
CAGCAGATCATGCAGCAGATCCGCCCGCCCTTCATCCGCGGGCCTCCGCACCATGCCTCC c.1260
Q Q I M Q Q I R P P F I R G P P H H A S p.420
. . . . . . g.149052
AACCCCAACAGCCCCCTGTCCAACCCCATGCTTCCCGGCATCGGGCCCCCGCCCGGTGGC c.1320
N P N S P L S N P M L P G I G P P P G G p.440
. . . . . . g.149112
CCCAGAAACCTGGGCCCCACTTCCAGCCCCATGCACCGGCCCATGCTATCGCCCCACATC c.1380
P R N L G P T S S P M H R P M L S P H I p.460
. . . . . . g.149172
CACCCCCCGAGCACCCCCACCATGCCCGGGAACCCCCCAGGCCTGCTGCCCCCGCCGCCT c.1440
H P P S T P T M P G N P P G L L P P P P p.480
. . . . . . g.149232
CCGGGCGCCCCGCTGCCGAGTCTTCCCTTCCCGCCAGTGAGCATGATGCCAAATGGCCCG c.1500
P G A P L P S L P F P P V S M M P N G P p.500
. . . . . . g.149292
ATGCCGGTGCCCCAGATGATGAATTTCGGGCTGCCGTCGCTTGCCCCGCTGGTGCCGCCC c.1560
M P V P Q M M N F G L P S L A P L V P P p.520
. . . . . . g.149352
CCGACCCTGCTCGTGCCGTACCCCGTGATCGTGCCCCTACCGGTGCCCATCCCCATCCCC c.1620
P T L L V P Y P V I V P L P V P I P I P p.540
. . . . . . g.149412
ATCCCTATCCCTCACGTCAGCGACTCCAAGCCCCCCAACGGGTTCTCCAGCAACGGGGAG c.1680
I P I P H V S D S K P P N G F S S N G E p.560
. . . . . . g.149472
AACTTCATTCCGAACGCCCCTGGCGACTCCGCGGCGGCGGGCGGCAAGCCAAGCGGACAC c.1740
N F I P N A P G D S A A A G G K P S G H p.580
. . . . . . g.149532
TCCCTGTCCCCCCGGGACTCCAAGCAGGGCTCGTCCAAGTCCGCGGACTCGCCCCCCGGC c.1800
S L S P R D S K Q G S S K S A D S P P G p.600
. . . . . . g.149592
TGCTCGGGCCAGGCCCTGAGCCTGGCGCCCACGCCCGCCGAGCATGGCCGGAGCGAGGTG c.1860
C S G Q A L S L A P T P A E H G R S E V p.620
. . . . . . g.149652
GTGGACCTGACGCGGCGCGCCGGCAGCCCCCCGGGCCCCCCGGGCGCGGGCGGCCAGCTC c.1920
V D L T R R A G S P P G P P G A G G Q L p.640
. . . . . . g.149712
GGCTTCCCAGGCGTGCTGCAGGGCCCGCAGGACGGCGTCATCGACCTGACCGTGGGCCAC c.1980
G F P G V L Q G P Q D G V I D L T V G H p.660
. . . . . . g.149772
CGAGCCCGGCTGCACAACGTGATCCACCGCGCGCTGCACGCGCACGTCAAGGCGGAGCGC c.2040
R A R L H N V I H R A L H A H V K A E R p.680
. . . . . . g.149832
GAGCCGAGCGCCGCGGAGCGCAGGACCTGCGGCGGCTGCAGGGACGGCCACTGCAGCCCG c.2100
E P S A A E R R T C G G C R D G H C S P p.700
. . . . . . g.149892
CCCGCCGCCGGCGACCCAGGCCCGGGCGCCCCGGCGGGCCCCGAGGCGGCCGCGGCCTGC c.2160
P A A G D P G P G A P A G P E A A A A C p.720
. . . . . . g.149952
AACGTCATCGTGAACGGCACGCGCGGCGCCGCCGCCGAGGGCGCTAAGAGCGCGGAGCCG c.2220
N V I V N G T R G A A A E G A K S A E P p.740
. . . . . . g.150012
CCTCCCGAGCAGCCGCCGCCGCCGCCGCCGCCCGCGCCCCCCAAGAAGCTGCTGTCGCCT c.2280
P P E Q P P P P P P P A P P K K L L S P p.760
. . . . . . g.150072
GAGGAACCGGCGGTGAGCGAGCTAGAGTCGGTCAAGGAGAATAACTGTGCTTCCAACTGC c.2340
E E P A V S E L E S V K E N N C A S N C p.780
. . . . . . g.150132
CACCTGGACGGGGAGGCGGCCAAAAAGCTGATGGGCGAGGAGGCCCTGGCGGGGGGCGAC c.2400
H L D G E A A K K L M G E E A L A G G D p.800
. . . . . . g.150192
AAGTCAGACCCGAACCTTAATAACCCCGCGGACGAGGACCATGCCTATGCTCTGCGGATG c.2460
K S D P N L N N P A D E D H A Y A L R M p.820
. . . . . . g.150252
CTGCCCAAGACCGGCTGCGTGATCCAGCCTGTGCCAAAACCCGCGGAGAAGGCTGCCATG c.2520
L P K T G C V I Q P V P K P A E K A A M p.840
. . . . . . g.150312
GCACCGTGCATCATCTCCTCGCCCATGCTCAGCGCCGGGCCTGAGGACCTGGAGCCGCCG c.2580
A P C I I S S P M L S A G P E D L E P P p.860
. . . . g.150354
CTCAAAAGGAGGTGCCTCCGAATTAGAAATCAGAATAAGTAA | c.2623
L K R R C L R I R N Q N K X p.873
| 07 . . . . . . g.173151
aag | gaacgttcactcacagggtacgctcatggagagagggcgcagagcaaaccatgtcac c.*60
. . . . . . g.173211
gccatccaatgacaccagctggtcagctcaccaccccctctggctaaaactcaagcaaat c.*120
. . . . . . g.173271
aaagccgcttcctgtcattaagcatctcagaggaagcagccctccctcgatggcctctag c.*180
. . . . . . g.173331
cccagagaagcccgcgcatcttggacccaccaagcaggcccagccttcctgctgccacca c.*240
. . . . . . g.173391
tctctgcttctccccagaggaacttagggatttcacccctggcttttaaaaaaaacgaaa c.*300
. . . . . . g.173451
taccgacaagccacaaggaccaatgtaggtattctccccgccccatcttcaaggctcagc c.*360
. . . . . . g.173511
gactgaggctggaagatgatatggattggaacacaaaaaatctttttttaatctttttaa c.*420
. . . . . . g.173571
aaactgctgtggttttgctgctacactaagaattgtgatttgcattgtacggttttggac c.*480
. . . . . . g.173631
ctatattgttcacgttttgatggcggagaggggtggtcctggaggcccaatgcttcagag c.*540
. . . . . . g.173691
tcatctctgtcctgcccgggatgcacttttaaatgaagagttagaatattttattggcta c.*600
. . . . . . g.173751
atatacttttcttgttatttttacaaaggccacctttatcctttttgatgccatattttc c.*660
. . . . . . g.173811
agtgttacacttttatggcttttaattttcgatttgacagatgtaagaagcagcatgaat c.*720
. . . . . . g.173871
agtttatactgtggtttttcagagactgaatgccaagagaactcggtaaatgtttattct c.*780
. . . . . . g.173931
tctcagctttctctttaaattcccctaaatagcgccccatttgggaacagagcaagagtg c.*840
. . . . . . g.173991
ttgaactgaagaccaaaatgccctcaaggtgtaaaataatccgagggggaatatttgctg c.*900
. . . . . . g.174051
ggcgtcaggaaagactcagatgaaatttcaaccctgatggttttcggtgatccaggaagt c.*960
. . . . . . g.174111
cagtgagacaatctctctatatgcagagccctttcatgataattagaatggtatggacaa c.*1020
. . . . . . g.174171
accaatgaaaacaagagggaaagtgagaaagatcacccatgattctgtttcactgtttgc c.*1080
. . . . . . g.174231
tttctcctgtcatggttaagagaaatgtgcaattcgatcctcaatcagtgggtggaggat c.*1140
. . . . . . g.174291
aacagggtagattcacttgtgtgcacttgtacagttgtagctgcgagtccagaagtcctc c.*1200
. . . . . . g.174351
tagagcatgtgtactggcactgagttggtgagacagttgtggagtatcccattctgatga c.*1260
. . . . . . g.174411
gtacagaaaaaaaaagaaaaagaaaagaagagaaaaaattaagaaaaaaatcaaaaaagg c.*1320
. . . . . . g.174471
aagaaaactaaaaaaaaaaaaaatcaaatcaccttgtgattcagtgtatctgtttactaa c.*1380
. . . . . . g.174531
ctcaaataaagcaattgttccctctggaggggtccaggtgcccccgccccacaaggccgc c.*1440
. . . . . . g.174591
ggagcctcagcaggaggggtggcgagttgcgggtgggcagggccaggacggtgtggcgcc c.*1500
. . . . . . g.174651
agccttgaagcaccacggcccaaggatgcggtgtacatactgtatttctagattctcctt c.*1560
. . . . . . g.174711
tgtacagagtcacttcacaagtcaagctactgttttacaggtgctccttatttattagag c.*1620
. . . . . . g.174771
ctgtgagagcttgggggacacacctggcgagcaagctcgctttttaaaaatgaaatttgg c.*1680
. . . . . . g.174831
gggcaggggaaggggaggcgggagggaggggaagctcgcaagcccggggagagatttata c.*1740
. . . . . . g.174891
aaagtaaacaaaagaaaaccttccagcaacaaattaaaaaataataacaaatcaacccca c.*1800
. . . . . . g.174951
gcaccaaacccacccaggcaggaagaagccgcccctcctctggggccatatttttctgct c.*1860
. . . . . . g.175011
gggtcacaacattctcctctccctgactggtgtcagattcatcaaacaaaaaataaatct c.*1920
. . . . . . g.175071
cgaagaaaaaaaatgcacttacatgtgcttatttggcttttctcattattatgactactg c.*1980
. . . . . . g.175131
tttttttttgttttttgttttttgttttattacagaggtgttcatttttctccccctggg c.*2040
. . . . . . g.175191
aaacattttaaaaaatagaactaaggagttttaaaagatggtaagctactgggatggcac c.*2100
. . . . . . g.175251
tgtctcttcctgacctgctagaccacgcttgtctgcagacaagagcccactccgtccgtt c.*2160
. . . . . . g.175311
ccagggcctgcttcctaaccatgcccatcactgacagcacacagtgcatgggaagtgagt c.*2220
. . . . . . g.175371
gtttaggctgtagacccaggtgtggtgtcccttccaagtgctcttcaagtcctgatcttt c.*2280
. . . . . . g.175431
tttggctccaagggttcaggcctgaggttcaagaagcaccatcaaatggaggcaaacatg c.*2340
. . . . . . g.175491
ctccacgggttccactcacatccacacaccatctcaccccactgactagagagactttta c.*2400
. . . . . . g.175551
tttcagccttatgtgaatggggtgggtccgtttggctctttgatacctgagttaaatatc c.*2460
. . . . . . g.175611
agaaagttcctaaggtggaaagtatgctaatatctagttctagtcattgtaaatctagtt c.*2520
. . . . . . g.175671
cagttctcttgttctacatatgaaaaaacagaagcctagaaaagcaactcgacctgttca c.*2580
. . . . . . g.175731
gagtctcgcacttagttgatttagcttctcaaaaaaatgaatgttcattaaaatctgagg c.*2640
. . . . . . g.175791
caccacgagcagctcccttgaagtgatcatcctgtggattccggagacctgattttcttc c.*2700
. . . . . . g.175851
tcccatggagcccgagagaatcttggaggcttcctggtgcagagttatatttatggcggt c.*2760
. . . . . . g.175911
gactccgtctgaactctgccgaggcaagcccagccaaggacgtgccagcggccgaggcac c.*2820
. . . . . . g.175971
ccggctgtggttgtcctgatagcattattcatctggtcttggccatggagacagtcatcc c.*2880
. . . . . . g.176031
aggatattgattttgcttttgtctgtagtccaagattgtcaagcaaacattttgaccctt c.*2940
. . . . . . g.176091
ctggaaacaaaaggtacctttgttccagcatagaaagattctgtggcatctcataagcca c.*3000
. . . . . . g.176151
tcagcaccccttttcctcctcttccttctcacgatcttactgctgtctgaatgcacaatt c.*3060
. . . . g.176197
ctcttgggatatcaaaaccatatataaagagaaatagaaacaataa c.*3106
(downstream sequence)
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