(used for variant description)
(last modified October 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_181646.2 in the ZNF804B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ZNF804B transcript NM_181646.2.
(upstream sequence)
. . . . . g.5058
gctttggcgctcccaaggactccccgccactctccccacaaagcagcggcggtggcgg c.-481
. . . . . . g.5118
cggctgctgctggatcttcacactgcagccagcagcccaggacgcccccggccggacgat c.-421
. . . . . . g.5178
gggtacccgcgcctgagcatcccccgggcaggcgccaggcgcgaaggcagggggcgggag c.-361
. . . . . . g.5238
gaaaggggcgggggaattcctgattccctggtggaccctggaagttgtccttaaataaat c.-301
. . . . . . g.5298
atatcgctggcccgcggttgagcagccacctcgtcagagcagcatgtggactggctcgcc c.-241
. . . . . . g.5358
gggtcccctccgtgctctgtgctgtcgccgccgccgcctctgtcagagcagcagctgtcg c.-181
. . . . . . g.5418
gcagcaggagccccgcacggggcgcggagcagggacgcgctgccaccgcctccccctgcg c.-121
. . . . . . g.5478
tcctgctggccgcgtcttctcgggaggtggtagtcgctgttgccgctgagaaacccgccc c.-61
. . . . . . g.5538
gctttccacggctggtcgcctggtgaggagttgagactctgcgcctccgcccggacccac c.-1
. . . . . . g.5598
ATGGCTTGTTACCTGGTCATCAGTTCGAGACATCTCAGCAATGGGCACTACCGGGGCATT c.60
M A C Y L V I S S R H L S N G H Y R G I p.20
. . . . | 02 . g.463728
AAAGGAGTCTTCAGGGGACCCCTGTGCAAGAACGGATCTCCCTCTCCG | GATTTTGCAGAA c.120
K G V F R G P L C K N G S P S P | D F A E p.40
. . . . . . g.463788
AAGAAGTCCACAGCAAAGGCCCTGGAAGATGTAAAGGCAAACTTTTACTGTGAATTATGT c.180
K K S T A K A L E D V K A N F Y C E L C p.60
. . . . . . g.463848
GACAAGCAGTATCACAAACACCAGGAGTTTGACAATCATATTAATTCTTATGACCATGCT c.240
D K Q Y H K H Q E F D N H I N S Y D H A p.80
| 03 . . . . . g.572956
CATAAGCAG | AGACTGAAAGAATTAAAGCAACGGGAATTTGCTCGAAATGTAGCTTCTAAG c.300
H K Q | R L K E L K Q R E F A R N V A S K p.100
. . . . . . g.573016
TCATGGAAAGATGAGAAAAAACAAGAAAAAGCACTTAAACGACTTCATCAGCTGGCTGAG c.360
S W K D E K K Q E K A L K R L H Q L A E p.120
. . | 04 . . . . g.578964
TTAAGGCAGCAATCTGAATG | TGTTTCTGGAAATGGACCAGCATACAAAGCCCCCAGGGTA c.420
L R Q Q S E C | V S G N G P A Y K A P R V p.140
. . . . . . g.579024
GCCATAGAAAAGCAACTCCAGCAAGGAATTTTCCCCATTAAGAATGGCAGAAAGGTATCA c.480
A I E K Q L Q Q G I F P I K N G R K V S p.160
. . . . . . g.579084
TGCATGAAGAGTGCTCTTCTCCTTAAAGGAAAAAATCTCCCCAGAATCATATCCGATAAA c.540
C M K S A L L L K G K N L P R I I S D K p.180
. . . . . . g.579144
CAGCGGTCCACCATGCCAAATCGACACCAATTACAATCAGACAGGCGTTGTTTGTTTGGA c.600
Q R S T M P N R H Q L Q S D R R C L F G p.200
. . . . . . g.579204
AATCAGGTACTGCAAACATCTTCAGATCTCAGCAATGCAAATCACAGAACAGGAGTATCA c.660
N Q V L Q T S S D L S N A N H R T G V S p.220
. . . . . . g.579264
TTTACTTTTTCCAAAAAAGTGCACCTAAAATTAGAATCTTCAGCATCAGTTTTCAGTGAG c.720
F T F S K K V H L K L E S S A S V F S E p.240
. . . . . . g.579324
AACACAGAAGAAACCCATGATTGTAACAAGTCACCCATTTATAAAACAAAACAAACTGCA c.780
N T E E T H D C N K S P I Y K T K Q T A p.260
. . . . . . g.579384
GATAAGTGCAAGTGCTGCAGGTTTGCAAATAAAGATACACACCTTACCAAGGAAAAAGAG c.840
D K C K C C R F A N K D T H L T K E K E p.280
. . . . . . g.579444
GTAAATATCTCACCAAGCCATCTGGAAAGTGTTTTACACAATACCATCTCCATAAACTCT c.900
V N I S P S H L E S V L H N T I S I N S p.300
. . . . . . g.579504
AAAATTTTGCAAGACAAACACGACTCTATTGATGAGACACTAGAAGATTCAATTGGCATT c.960
K I L Q D K H D S I D E T L E D S I G I p.320
. . . . . . g.579564
CATGCTTCATTCTCTAAATCTAACATTCATCTTTCAGATGTAGATTTTACTCCTACCAGC c.1020
H A S F S K S N I H L S D V D F T P T S p.340
. . . . . . g.579624
AGAGAAAAAGAAACTAGAAATACATTGAAGAACACTTTAGAAAATTGTGTTAATCACCCA c.1080
R E K E T R N T L K N T L E N C V N H P p.360
. . . . . . g.579684
TGCCAAGCAAATGCTTCCTTCAGCCCACCAAACATTTACAACCATAGTGATGCCAGGATA c.1140
C Q A N A S F S P P N I Y N H S D A R I p.380
. . . . . . g.579744
TCTGAATGCCTGGATGAGTTTTCATCACTGGAGCCAAGTGAACAAAAGAGTACAGTGCAT c.1200
S E C L D E F S S L E P S E Q K S T V H p.400
. . . . . . g.579804
CTGAATCCAAATTCCAGAATAGAGAACAGAGAAAAATCTTTAGATAAAACAGAAAGAGTT c.1260
L N P N S R I E N R E K S L D K T E R V p.420
. . . . . . g.579864
AGCAAAAATGTTCAAAGACTTGTAAAAGAAGCATGTACCCATAATGTGGCATCTAAACCA c.1320
S K N V Q R L V K E A C T H N V A S K P p.440
. . . . . . g.579924
CTACCTTTTCTCCACGTTCAAAGCAAGGATGGCCACACCACTCTTCAATGGCCTACGGAA c.1380
L P F L H V Q S K D G H T T L Q W P T E p.460
. . . . . . g.579984
CTTCTGCTCTTTACAAAAACAGAACCCTGTATCTCTTATGGCTGCAACCCACTGTATTTT c.1440
L L L F T K T E P C I S Y G C N P L Y F p.480
. . . . . . g.580044
GATTTTAAGCTTTCTCGGAACACAAAGGAAGACCACAATCTAGAGGACTTAAAAACAGAA c.1500
D F K L S R N T K E D H N L E D L K T E p.500
. . . . . . g.580104
TTGGGTAAGAAGCCCTTGGAATTGAAGACTAAAAGAGAGAGCCAAGTCTCAGGTTTAACT c.1560
L G K K P L E L K T K R E S Q V S G L T p.520
. . . . . . g.580164
GAAGACCAACAAAAATTGATCCAAGAAGATTATCAATATCCGAAACCAAAGACGATGATA c.1620
E D Q Q K L I Q E D Y Q Y P K P K T M I p.540
. . . . . . g.580224
GCTAATCCGGATTGGGAAAAATTCCAGAGGAAATATAATTTGGACTACAGTGATTCTGAG c.1680
A N P D W E K F Q R K Y N L D Y S D S E p.560
. . . . . . g.580284
CCAAATAAGAGTGAATATACTTTCAGTGCAAATGATTTGGAAATGAAAAATCCTAAAGTG c.1740
P N K S E Y T F S A N D L E M K N P K V p.580
. . . . . . g.580344
CCTCTTTACCTCAACACATCTCTAAAGGATTGTGCTGGAAAGAATAATAGTAGTGAGAAC c.1800
P L Y L N T S L K D C A G K N N S S E N p.600
. . . . . . g.580404
AAACTTAAGGAAGCTTCAAGGGCCCATTGGCAAGGCTGCAGAAAGGCAGTTCTAAATGAT c.1860
K L K E A S R A H W Q G C R K A V L N D p.620
. . . . . . g.580464
ATAGATGAGGACCTATCTTTTCCTTCCTACATCTCTAGGTTTAAAAAGCATAAATTGATT c.1920
I D E D L S F P S Y I S R F K K H K L I p.640
. . . . . . g.580524
CCCTGCAGTCCTCATTTGGAATTTGAAGATGAAAGACAATTCAACTGCAAGTCCAGTCCT c.1980
P C S P H L E F E D E R Q F N C K S S P p.660
. . . . . . g.580584
TGTACAGTAGGGGGTCACAGTGACCATGGGAAAGACTTCAGTGTAATTTTGAAGAGTAAC c.2040
C T V G G H S D H G K D F S V I L K S N p.680
. . . . . . g.580644
CACATCAGCATGACCAGCAAGGTTTCCGGATGTGGAAACCAAAGATACAAGAGATACTCT c.2100
H I S M T S K V S G C G N Q R Y K R Y S p.700
. . . . . . g.580704
CCACAGTCATGTTTGAGTAGATATTCTTCCTCTTTGGACACATCCCCTAGCAGCATGTCT c.2160
P Q S C L S R Y S S S L D T S P S S M S p.720
. . . . . . g.580764
AGCTTGAGAAGTACTTGTTCAAGTCATAGATTCAATGGTAATAGCAGAGGTAATTTGCTC c.2220
S L R S T C S S H R F N G N S R G N L L p.740
. . . . . . g.580824
TGCTTCCATAAAAGAGAACACCACTCAGTTGAAAGGCACAAACGGAAATGTCTAAAGCAC c.2280
C F H K R E H H S V E R H K R K C L K H p.760
. . . . . . g.580884
AACTGCTTCTACTTGTCTGATGATATAACAAAGAGCAGCCAAATGCAGTCTGAACCACAG c.2340
N C F Y L S D D I T K S S Q M Q S E P Q p.780
. . . . . . g.580944
AAAGAGAGGAACTGCAAATTGTGGGAATCATTTAAAAATGAAAAATACTCAAAACGTAGA c.2400
K E R N C K L W E S F K N E K Y S K R R p.800
. . . . . . g.581004
TATTGTCACTGCAGAGAAAGACAAAAACTGGGCAAAAATCAACAACAATTTTCAGGGCTA c.2460
Y C H C R E R Q K L G K N Q Q Q F S G L p.820
. . . . . . g.581064
AAATCTACGAGAATCATCTATTGTGATTCTAACTCACAGATTTCCTGTACTGGAAGCAGT c.2520
K S T R I I Y C D S N S Q I S C T G S S p.840
. . . . . . g.581124
AAAAAACCACCTAATTGCCAGGGAACTCAGCACGACAGATTGGACTCTTACTCAATAGAG c.2580
K K P P N C Q G T Q H D R L D S Y S I E p.860
. . . . . . g.581184
AAAATGTATTACTTGAATAAAAGCAAGAGAAATCAAGAGTCTTTGGGCAGCCCTCACATT c.2640
K M Y Y L N K S K R N Q E S L G S P H I p.880
. . . . . . g.581244
TGTGATCTGGGAAAAGTCAGGCCCATGAAGTGTAACTCCGGGAATATCAGCTGCCTTCTA c.2700
C D L G K V R P M K C N S G N I S C L L p.900
. . . . . . g.581304
AAGAACTGTTCCAGTGGCCCTTCAGAAACCACAGAATCAAACACTGCAGAAGGAGAGAGG c.2760
K N C S S G P S E T T E S N T A E G E R p.920
. . . . . . g.581364
ACCCCTCTAACAGCAAAAATCCTTTTAGAAAGAGTACAAGCCAAGAAATGTCAAGAACAA c.2820
T P L T A K I L L E R V Q A K K C Q E Q p.940
. . . . . . g.581424
TCAAGTAATGTTGAGATCTCTTCAAACAGTTGTAAAAGTGAATTAGAGGCTCCTTCGCAA c.2880
S S N V E I S S N S C K S E L E A P S Q p.960
. . . . . . g.581484
GTCCCATGCACAATTCAACTTGCACCATCAGGCTGTAACAGACAAGCATTGCCTTTGTCT c.2940
V P C T I Q L A P S G C N R Q A L P L S p.980
. . . . . . g.581544
GAAAAAATACAGTATGCAAGTGAGAGCAGAAATGATCAAGACAGTGCAATTCCAAGGACT c.3000
E K I Q Y A S E S R N D Q D S A I P R T p.1000
. . . . . . g.581604
ACGGAGAAAGACAAAAGCAAAAGTTCACACACAAATAATTTTACAATTTTAGCAGACACT c.3060
T E K D K S K S S H T N N F T I L A D T p.1020
. . . . . . g.581664
GATTGTGATAACCATCTTTCTAAAGGTATAATTCACCTAGTAACAGAGTCTCAGTCACTA c.3120
D C D N H L S K G I I H L V T E S Q S L p.1040
. . . . . . g.581724
AACATAAAAAGGGATGCAACAACAAAAGAACAATCAAAACCTTTAATTAGTGAAATCCAA c.3180
N I K R D A T T K E Q S K P L I S E I Q p.1060
. . . . . . g.581784
CCTTTTATTCAAAGCTGTGACCCAGTACCAAATGAATTCCCTGGTGCTTTTCCGTCTAAT c.3240
P F I Q S C D P V P N E F P G A F P S N p.1080
. . . . . . g.581844
AAATATACTGGTGTGACTGATTCAACAGAGACCCAAGAAGACCAAATAAATCTAGACTTA c.3300
K Y T G V T D S T E T Q E D Q I N L D L p.1100
. . . . . . g.581904
CAGGATGTAAGCATGCATATAAATCATGTAGAGGGAAATATAAACTCTTACTATGACAGA c.3360
Q D V S M H I N H V E G N I N S Y Y D R p.1120
. . . . . . g.581964
ACTATGCAGAAACCTGACAAAGTCGAAGACGGATTAGAAATGTGTCATAAATCTATCTCT c.3420
T M Q K P D K V E D G L E M C H K S I S p.1140
. . . . . . g.582024
CCCCCTTTAATTCAACAGCCCATAACATTTTCTCCTGACGAAATAGATAAATATAAGATC c.3480
P P L I Q Q P I T F S P D E I D K Y K I p.1160
. . . . . . g.582084
CTACAGCTACAAGCCCAGCAGCATATGCAGAAGCAACTCCTATCAAAGCATCTTCGAGTT c.3540
L Q L Q A Q Q H M Q K Q L L S K H L R V p.1180
. . . . . . g.582144
TTGCCTGCTGCAGGGCCTACTGCCTTCTCTCCGGCCTCAACCGTACAGACAGTTCCAGTT c.3600
L P A A G P T A F S P A S T V Q T V P V p.1200
. . . . . . g.582204
CACCAGCACACTTCTATCACCACCATCCACCACACGTTCCTGCAGCATTTTGCTGTTTCT c.3660
H Q H T S I T T I H H T F L Q H F A V S p.1220
. . . . . . g.582264
GCTTCCTTAAGTTCTCATAGCAGTCACCTCCCTATTGCTCATCTACATCCTCTTTCACAG c.3720
A S L S S H S S H L P I A H L H P L S Q p.1240
. . . . . . g.582324
GCACATTTCAGTCCTATTTCATTTTCGACTCTGACTCCAACCATTATCCCTGCACACCCC c.3780
A H F S P I S F S T L T P T I I P A H P p.1260
. . . . . . g.582384
ACTTTCTTAGCAGGTCATCCCCTGCATTTAGTAGCTGCTACCCCCTTCCACCCATCTCAC c.3840
T F L A G H P L H L V A A T P F H P S H p.1280
. . . . . . g.582444
ATAACACTTCAGCCTCTGCCCCCTACAGCATTTATTCCTACATTGTTTGGTCCTCACTTA c.3900
I T L Q P L P P T A F I P T L F G P H L p.1300
. . . . . . g.582504
AATCCAGCCACAACTTCTATCATCCACTTGAATCCTTTAATCCAACCAGTATTCCAAGGT c.3960
N P A T T S I I H L N P L I Q P V F Q G p.1320
. . . . . . g.582564
CAAGATTTTTGCCATCATTCTTGCTCTAGCCAGATGCAACAGCTAAATGAAGTGAAAGAG c.4020
Q D F C H H S C S S Q M Q Q L N E V K E p.1340
. . . g.582594
GCCTTAAATGTGTCCACACACTTGAACTAA c.4050
A L N V S T H L N X p.1349
(downstream sequence)
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