(used for variant description)
(last modified October 26, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_015355.2 in the SUZ12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009237.1, covering SUZ12 transcript NM_015355.2.
(upstream sequence)
. . . . g.5042
ggtgagcggcctccgaagcggagcggggctctgaggagacac c.-181
. . . . . . g.5102
tttttttttcctccctccttccctcctctcctcctcccttcccttcccctctcctcccct c.-121
. . . . . . g.5162
ctctcctccttcccccctcggtccgccggagcctgctggggcgagcggttggtattgcag c.-61
. . . . . . g.5222
gcgcttgctctccggggccgcccggcgggtagctggcggggggaggaggcaggaaccgcg c.-1
. . . . . . g.5282
ATGGCGCCTCAGAAGCACGGCGGTGGGGGAGGGGGCGGCTCGGGGCCCAGCGCGGGGTCC c.60
M A P Q K H G G G G G G G S G P S A G S p.20
. . . . . . g.5342
GGGGGAGGCGGCTTCGGGGGTTCGGCGGCGGTGGCGGCGGCGACGGCTTCGGGCGGCAAA c.120
G G G G F G G S A A V A A A T A S G G K p.40
. . . . . . g.5402
TCCGGCGGCGGGAGCTGTGGAGGGGGTGGCAGTTACTCGGCCTCCTCCTCCTCCTCCGCG c.180
S G G G S C G G G G S Y S A S S S S S A p.60
. . . . . . g.5462
GCGGCAGCGGCGGGGGCTGCGGTGTTACCGGTGAAGAAGCCGAAAATGGAGCACGTCCAG c.240
A A A A G A A V L P V K K P K M E H V Q p.80
. . . | 02 . . . g.8287
GCTGACCACGAGCTTTTCCTCCAGGCCTTTGAGA | AGCCAACACAGATCTATAGATTTCTT c.300
A D H E L F L Q A F E K | P T Q I Y R F L p.100
. . | 03 . . . . g.8436
CGAACTCGGAATCTCATAGCA | CCAATATTTTTGCACAGAACTCTTACTTACATGTCTCAT c.360
R T R N L I A | P I F L H R T L T Y M S H p.120
. . | 04 . . . . g.15626
CGAAACTCCAGAACAAACATCAAAAG | GAAAACATTTAAAGTTGATGATATGTTATCAAAA c.420
R N S R T N I K R | K T F K V D D M L S K p.140
. . . | 05 . . . g.34147
GTAGAGAAAATGAAAGGAGAGCAAGAATCTCATAG | CTTGTCAGCTCATTTGCAGCTTACG c.480
V E K M K G E Q E S H S | L S A H L Q L T p.160
. . | 06 . . . . g.41156
TTTACTGGTTTCTTCCACAAAAATG | ATAAGCCATCACCAAACTCAGAAAATGAACAAAAT c.540
F T G F F H K N D | K P S P N S E N E Q N p.180
. . . . . | 07 . g.43466
TCTGTTACCCTGGAAGTCCTGCTTGTGAAAGTTTGCCACAAAAAAAGAAAG | GATGTAAGT c.600
S V T L E V L L V K V C H K K R K | D V S p.200
. . . . . . g.43526
TGTCCAATAAGGCAAGTTCCCACAGGTAAAAAGCAGGTGCCTTTGAATCCTGACCTCAAT c.660
C P I R Q V P T G K K Q V P L N P D L N p.220
. . . . . . g.43586
CAAACAAAACCCGGAAATTTCCCGTCCCTTGCAGTTTCCAGTAATGAATTTGAACCTAGT c.720
Q T K P G N F P S L A V S S N E F E P S p.240
. . . . . . g.43646
AACAGCCATATGGTGAAGTCTTACTCGTTGCTATTTAGAGTGACTCGTCCAGGAAGAAGA c.780
N S H M V K S Y S L L F R V T R P G R R p.260
. . . . | 08 . . g.44513
GAGTTTAATGGAATGATTAATGGAGAAACCAATGAAAATATTG | ATGTCAATGAAGAGCTT c.840
E F N G M I N G E T N E N I D | V N E E L p.280
. . . . . . g.44573
CCAGCCAGAAGAAAACGAAATCGTGAGGATGGGGAAAAGACATTTGTTGCACAAATGACA c.900
P A R R K R N R E D G E K T F V A Q M T p.300
. | 09. . . . . g.51017
GTATTTGATAAAAACAG | GCGCTTACAGCTTTTAGATGGGGAATATGAAGTAGCCATGCAG c.960
V F D K N R | R L Q L L D G E Y E V A M Q p.320
. . . . . . g.51077
GAAATGGAAGAATGTCCAATAAGCAAGAAAAGAGCAACATGGGAGACTATTCTTGATGGG c.1020
E M E E C P I S K K R A T W E T I L D G p.340
| 10 . . . . . . g.56352
AAG | AGGCTGCCTCCATTCGAAACATTTTCTCAGGGACCTACGTTGCAGTTCACTCTTCGT c.1080
K | R L P P F E T F S Q G P T L Q F T L R p.360
. . . . . . g.56412
TGGACAGGAGAGACCAATGATAAATCTACGGCTCCTATTGCCAAACCTCTTGCCACTAGA c.1140
W T G E T N D K S T A P I A K P L A T R p.380
. . . . . . g.56472
AATTCAGAGAGTCTCCATCAGGAAAACAAGCCTGGTTCAGTTAAACCTACTCAAACTATT c.1200
N S E S L H Q E N K P G S V K P T Q T I p.400
| 11 . . . . . . g.61276
G | CTGTTAAAGAATCATTGACTACAGATCTACAAACAAGAAAAGAAAAGGATACTCCAAAT c.1260
A | V K E S L T T D L Q T R K E K D T P N p.420
. . . | 12 . . . g.61867
GAAAACCGACAAAAATTAAGAATATTTTATCAG | TTTCTCTATAACAACAATACAAGGCAA c.1320
E N R Q K L R I F Y Q | F L Y N N N T R Q p.440
. . . . . . g.61927
CAAACTGAAGCAAGAGATGACCTGCATTGCCCTTGGTGTACTCTGAACTGCCGCAAACTT c.1380
Q T E A R D D L H C P W C T L N C R K L p.460
. . . . . | 13. g.62542
TATAGTTTACTCAAGCATCTTAAACTCTGCCATAGCAGATTTATCTTCAACTATGTT | TAT c.1440
Y S L L K H L K L C H S R F I F N Y V | Y p.480
. . . . . . g.62602
CATCCAAAAGGTGCTAGGATAGATGTTTCTATCAATGAGTGTTATGATGGCTCCTATGCA c.1500
H P K G A R I D V S I N E C Y D G S Y A p.500
. . . . . . g.62662
GGAAATCCTCAGGATATTCATCGCCAACCTGGATTTGCTTTTAGTCGCAACGGACCAGTT c.1560
G N P Q D I H R Q P G F A F S R N G P V p.520
. . . | 14 . . . g.63564
AAGAGAACACCTATCACACATATTCTTGTGTGCAG | GCCAAAACGAACAAAAGCAAGCATG c.1620
K R T P I T H I L V C R | P K R T K A S M p.540
. . . . . . g.63624
TCTGAATTTCTTGAATCTGAAGATGGGGAAGTAGAACAGCAAAGAACATATAGTAGTGGC c.1680
S E F L E S E D G E V E Q Q R T Y S S G p.560
. . . . . . g.63684
CACAATCGTCTGTATTTCCATAGTGATACCTGCTTACCTCTCCGTCCACAAGAAATGGAA c.1740
H N R L Y F H S D T C L P L R P Q E M E p.580
. . . . . | 15 . g.64779
GTAGATAGTGAAGATGAAAAGGATCCTGAATGGCTAAGAGAAAAAACCATTACA | CAAATT c.1800
V D S E D E K D P E W L R E K T I T | Q I p.600
. . . . . . g.64839
GAAGAGTTTTCTGATGTTAATGAAGGAGAGAAAGAAGTGATGAAACTCTGGAATCTCCAT c.1860
E E F S D V N E G E K E V M K L W N L H p.620
. | 16 . . . . . g.66679
GTCATGAAGCATGG | GTTTATTGCTGACAATCAAATGAATCATGCCTGTATGCTGTTTGTA c.1920
V M K H G | F I A D N Q M N H A C M L F V p.640
. . . . . . g.66739
GAAAATTATGGACAGAAAATAATTAAGAAGAATTTATGTCGAAACTTCATGCTTCATCTA c.1980
E N Y G Q K I I K K N L C R N F M L H L p.660
. . . . . . g.66799
GTCAGCATGCATGACTTTAATCTTATTAGCATAATGTCAATAGATAAAGCTGTTACCAAG c.2040
V S M H D F N L I S I M S I D K A V T K p.680
. . . . . . g.66859
CTCCGTGAAATGCAGCAAAAATTAGAAAAGGGGGAATCTGCTTCCCCTGCAAACGAAGAA c.2100
L R E M Q Q K L E K G E S A S P A N E E p.700
. . . . . . g.66919
ATAACTGAAGAACAAAATGGGACAGCAAATGGATTTAGTGAAATTAACTCAAAAGAGAAA c.2160
I T E E Q N G T A N G F S E I N S K E K p.720
. . . . . . g.66979
GCTTTGGAAACAGATAGTGTCTCAGGGGTTTCAAAACAGAGCAAAAAACAAAAACTCTGA c.2220
A L E T D S V S G V S K Q S K K Q K L X p.739
. . . . . . g.67039
aaagctctaaccccatgttatggacaaacactgaaattacattttagggaattcatcctc c.*60
. . . . . . g.67099
taagaattatgtttttgtttttaatcatatgttccaaacaggcactgttagatgaagtaa c.*120
. . . . . . g.67159
atgatttcaacaaggatatttgtatcagggttctacttcacttcattatgcagcattaca c.*180
. . . . . . g.67219
tgtatatcacttttattgatgtcattaaaacattctgtactttaagcatgaaaagcaata c.*240
. . . . . . g.67279
tttcaaagtatttttaaactcaacaaatgtcatcaaatatgttgaattgatctagaaatt c.*300
. . . . . . g.67339
atttcatatataaatcagaatttttttgcatttatgaacggctgtttttctactttgtaa c.*360
. . . . . . g.67399
ttgtgagacattttcttggggagggaaaattggaatggttcccttttttagaaattgaag c.*420
. . . . . . g.67459
tggtcttcatatgtcaactacagaaaaggaaaaaaatagaaattgaaggatttttatgaa c.*480
. . . . . . g.67519
attatattgcattactatttgcagtcaaactttgatccttgtttttgaaatcatttgtca c.*540
. . . . . . g.67579
attcggaatgaaaaattataatgtaattttacattacataagttccttttacaattaaaa c.*600
. . . . . . g.67639
aatagcacttcttcatcttatgcctgtttgagaagatattaaattttcacattgttgaca c.*660
. . . . . . g.67699
gtgaaatgctatgttggtttataagattacagaccatttgttttcatgtggataatttta c.*720
. . . . . . g.67759
gtgcattgctcacccggtatgttttttttttttaacttgaacattttgcttgttttgttt c.*780
. . . . . . g.67819
ttcttttttaattagataatcacacggaaaattaagctgttcatatctttaaattaggat c.*840
. . . . . . g.67879
tgcaaaccaaggaaagaacgcatttgagattttaagatgtcacttataaggggagaagtg c.*900
. . . . . . g.67939
ttcttaaaaagtcaaccagaaaactgttatgccttttatttgtttgcaaggatgtctttg c.*960
. . . . . . g.67999
taatgtgtttcatgaatagaatatccaatagagataagctgacttgaatcattttgagca c.*1020
. . . . . . g.68059
attttgccctgtgttatatgtgtttcacgcacatatttgcagttggattttctccaacag c.*1080
. . . . . . g.68119
aaagtggattcactactggcacattaacaagcaccaataggtttttattccaactccgag c.*1140
. . . . . . g.68179
cactgtggttgagtaacatcacctcaattttttattatccttaaagatattgcattttca c.*1200
. . . . . . g.68239
tattctttatttataaaggatcaatgctgctgtaaatacaggtatttttaattttaaaat c.*1260
. . . . . . g.68299
ttcattccaccaccatcagatgcagttccctattttgtttaatgaagggatatataagct c.*1320
. . . . . . g.68359
ttctaatggtgtcttcagaaatttataaaatgtaaatactgatttgactggtctttaaga c.*1380
. . . . . . g.68419
tgtgtttaactgtgaggctatttaacgaatagtgtggatgtgatttgtcatccagtatta c.*1440
. . . . . . g.68479
agttcttagtcattgatttttgtgtttaaaaaaaaataggaaagagggaaactgcagctt c.*1500
. . . . . . g.68539
tcattacagattccttgattggtaagctctccaaatgatgagttctagtaaactctgatt c.*1560
. . . . . . g.68599
tttgcctctggatagtagatctcgagcgtttatctcgggctttaatttgctaaagctgtg c.*1620
. . . . . . g.68659
cacatatgtaaaaaaaaaaaaaaaaagattattttaggggagatgtaggtgtagaattat c.*1680
. . . . . . g.68719
tgcttatgtcatttcttaagcagttatgctcttaatgcttaaaagaaggctagcattgtt c.*1740
. . . . . . g.68779
tgcacaaaaagttggtgattcccaccccaaatagtaataaaattacttctgttgagtaaa c.*1800
. . . . . . g.68839
ctttttatgtcatcgtaaaagctgaaaaaatccctttgtttctatttataaaaaaagtgc c.*1860
. . . . . . g.68899
ttttctatatgtacccttgataacagattttgaagaaatcctgtaagatgataaagcatt c.*1920
. . . . . . g.68959
tgaatggtacagtagatgtaaaaaaaattcagtttaaaagaacatttgtttttacattaa c.*1980
. . . . . g.69014
atgtttatttgaaatcaaatgattttgtacataaagttcaataatataaaagctg c.*2035
(downstream sequence)
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