(used for variant description)
(last modified December 11, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001039891.2 in the ZNF674 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023376.1, covering ZNF674 transcript NM_001039891.2.
(upstream sequence)
. . . . g.5047
gaaatgctcggctgacccggagggtggcgcttcgttcacactggctg c.-181
. . . . | 02 . g.5866
ttgtcatccgcccctgaggtttcaggctgtcggcagtgaa | ggtcagagtgcagacctgag c.-121
. . . . . . g.5926
accactgctcaccgatttcagactccagtttatctgtgcctcggcttccccacttagtcg c.-61
. . . . | 03 . . g.8370
cagaagacttaggctgaggccccaggaagag | atctccatcctttgcaggagcacaacaag c.-1
. | 04 . . . . . g.21593
ATGGCCATGTCCCAG | GAATCATTGACCTTCAAGGACGTGTTTGTGGACTTCACCCTGGAG c.60
M A M S Q | E S L T F K D V F V D F T L E p.20
. . . . . . g.21653
GAGTGGCAGCAACTGGACTCTGCCCAGAAGAACCTCTACAGGGATGTCATGCTTGAGAAC c.120
E W Q Q L D S A Q K N L Y R D V M L E N p.40
. . | 05 . . . . g.22050
TACAGCCACCTGGTGTCCGTGG | GGCATCTAGTTGGGAAGCCAGATGTGATCTTCAGGTTG c.180
Y S H L V S V G | H L V G K P D V I F R L p.60
. . . . . . g.22110
GGACCAGGTGACGAGTCCTGGATGGCAGATGGAGGGACCCCGGTACGGACCTGTGCAGGT c.240
G P G D E S W M A D G G T P V R T C A G p.80
. | 06 . . . . . g.49169
GAGGACAGGCCAG | AAGTCTGGGAAGTTGACGAGCAGATAGATCACTACAAGGAAAGCCAA c.300
E D R P E | V W E V D E Q I D H Y K E S Q p.100
. . . . . . g.49229
GACAAATTTCTGTGGCAAGCTGCATTCATAGGCAAGGAAACACTGAAGGATGAAAGTGGT c.360
D K F L W Q A A F I G K E T L K D E S G p.120
. . . . . . g.49289
CAAGAATGTAAAATATGTAGAAAAATCATTTATCTCAACACAGACTTTGTTTCTGTAAAA c.420
Q E C K I C R K I I Y L N T D F V S V K p.140
. . . . . . g.49349
CAAAGACTCCCTAAATATTATTCATGGGAAAGGTGTTCAAAACATCATTTAAACTTTCTT c.480
Q R L P K Y Y S W E R C S K H H L N F L p.160
. . . . . . g.49409
GGTCAAAATAGAAGCTATGTAAGAAAGAAAGATGATGGATGTAAGGCATATTGGAAAGTA c.540
G Q N R S Y V R K K D D G C K A Y W K V p.180
. . . . . . g.49469
TGCCTCCATTATAATCTTCATAAAGCTCAACCTGCAGAGAGATTTTTTGACCCTAATCAA c.600
C L H Y N L H K A Q P A E R F F D P N Q p.200
. . . . . . g.49529
CGAGGGAAAGCCCTCCACCAAAAGCAAGCCCTTAGAAAAAGTCAGAGAAGTCAAACTGGG c.660
R G K A L H Q K Q A L R K S Q R S Q T G p.220
. . . . . . g.49589
GAGAAACTCTACAAATGTACTGAATGTGGAAAAGTGTTTATCCAGAAAGCAAACTTAGTT c.720
E K L Y K C T E C G K V F I Q K A N L V p.240
. . . . . . g.49649
GTACATCAAAGAACTCACACCGGAGAGAAACCTTATGAATGCTGCGAATGTGCAAAAGCC c.780
V H Q R T H T G E K P Y E C C E C A K A p.260
. . . . . . g.49709
TTCAGCCAGAAGTCAACCCTCATAGCACACCAGAGAACTCACACAGGGGAGAAGCCCTAT c.840
F S Q K S T L I A H Q R T H T G E K P Y p.280
. . . . . . g.49769
GAATGCAGTGAATGTGGAAAAACCTTTATCCAGAAGTCAACTCTGATTAAACATCAACGA c.900
E C S E C G K T F I Q K S T L I K H Q R p.300
. . . . . . g.49829
ACTCATACAGGAGAGAAACCATTTGTATGTGACAAATGTCCAAAAGCCTTTAAGAGTTCA c.960
T H T G E K P F V C D K C P K A F K S S p.320
. . . . . . g.49889
TATCATCTTATTAGACATGAAAAAACACACATTAGACAAGCATTTTATAAAGGTATTAAA c.1020
Y H L I R H E K T H I R Q A F Y K G I K p.340
. . . . . . g.49949
TGTACTACGTCCAGCCTTATATATCAAAGAATTCACACAAGTGAGAAACCTCAGTGCAGT c.1080
C T T S S L I Y Q R I H T S E K P Q C S p.360
. . . . . . g.50009
GAACATGGGAAAGCCTCTGATGAGAAGCCCAGTCCCACTAAACATTGGAGAACTCATACA c.1140
E H G K A S D E K P S P T K H W R T H T p.380
. . . . . . g.50069
AAAGAGAACATTTATGAGTGTAGTAAATGTGGGAAAAGCTTCAGAGGAAAGTCACACCTC c.1200
K E N I Y E C S K C G K S F R G K S H L p.400
. . . . . . g.50129
TCTGTTCATCAGAGAATTCATACAGGAGAGAAACCCTATGAATGTAGTATATGTGGGAAG c.1260
S V H Q R I H T G E K P Y E C S I C G K p.420
. . . . . . g.50189
ACTTTCAGTGGAAAGTCACACCTCTCTGTCCATCATAGAACTCATACAGGAGAGAAACCT c.1320
T F S G K S H L S V H H R T H T G E K P p.440
. . . . . . g.50249
TATGAATGCAGAAGATGTGGGAAAGCCTTTGGGGAGAAGTCAACCCTTATTGTACATCAG c.1380
Y E C R R C G K A F G E K S T L I V H Q p.460
. . . . . . g.50309
AGAATGCATACAGGAGAGAAACCCTATAAATGCAACGAATGTGGGAAAGCCTTTAGTGAG c.1440
R M H T G E K P Y K C N E C G K A F S E p.480
. . . . . . g.50369
AAGTCACCACTGATTAAACATCAGAGAATTCATACAGGAGAGAGACCCTATGAATGCACT c.1500
K S P L I K H Q R I H T G E R P Y E C T p.500
. . . . . . g.50429
GACTGTAAAAAAGCCTTCAGTAGGAAGTCAACTCTCATCAAACATCAGAGAATTCATACA c.1560
D C K K A F S R K S T L I K H Q R I H T p.520
. . . . . . g.50489
GGAGAAAAACCTTACAAATGTAGTGAATGTGGGAAGGCCTTCAGTGTGAAATCAACTCTC c.1620
G E K P Y K C S E C G K A F S V K S T L p.540
. . . . . . g.50549
ATTGTGCATCACAGAACTCATACAGGAGAGAAACCTTATGAATGCAGAGACTGTGGGAAA c.1680
I V H H R T H T G E K P Y E C R D C G K p.560
. . . . . . g.50609
GCATTCAGTGGGAAGTCAACTCTCATTAAACATCAGAGAAGTCACACAGGAGATAAAAAC c.1740
A F S G K S T L I K H Q R S H T G D K N p.580
g.50615
CTATGA c.1746
L X p.581
. . . . . . g.50675
ttatacttgagagtgggataattatactagtagttatttgtcatttgactattactagtc c.*60
. . . . . . g.50735
tcattatttgtcaaataatcatggcgagtaatcttataaatgtccagaatattggaaatt c.*120
. . . . . . g.50795
cttcatatgttaatgttcatttaacttaatacaaagtacaaaagtataattccagaggtg c.*180
. . . . . . g.50855
tcaataaatgtgatcagttttttcacccagaattcttcacccaggagtgaagaactgtat c.*240
. . . . . . g.50915
gtcaaataattcaaaaggggcaaaactgaatgtagttatgtgggaaagccttcagaaata c.*300
. . . . . . g.50975
atttaaatggcactgtttatcagagtatgtatgccgaggaaaactaagaatttagtgagc c.*360
. . . . . . g.51035
ttataaaaccatggtagccaggcgtggtacgtagctcacacctgtaatcctagcactttt c.*420
. . . . . . g.51095
gggaggctgaggtgggcagattgcttgagctcacaagtttgagaccagcctgggcaacat c.*480
. . . . . . g.51155
ggcaaaactctgtctctacaaaaaatacaaaagttatctgagtgtagtggtgcatacctt c.*540
. . . . . . g.51215
tagtcccagctactcaggaggttgaagtaggagggtggcttgagcccaggaggcagaggt c.*600
. . . . . . g.51275
tgcagtgaactgagatcgtgccactgcactccagcctgggcattatagccagaccttgtc c.*660
. . . . . . g.51335
aaataaataaataaacaaacccatggtataaatgagaggaatcatgctctatattctttt c.*720
. . . . . . g.51395
attaatagagacagggtcttgctatgttgcccaggctggtcttgaactcgtagcgttaat c.*780
. . . . . . g.51455
tgatcctcccacctttgcctcccaaagcacttgtattatagatatgagccaccacactta c.*840
. . . . . . g.51515
ccatgttctttaccaaacattttgtggaagaggtgtagaggtggcaaacaattataaatt c.*900
. . . . . . g.51575
taagatatgttcactgtggagtagagtatgattatttatttatttagagatggagtttcg c.*960
. . . . . . g.51635
ctcttctcgcccaggctggagtgcagtggcacgatcttggctcactgcagcctctgcctt c.*1020
. . . . . . g.51695
ccaggttcaagtgattctcctgcctcagcctcccaagtagctgggattacaggcacccac c.*1080
. . . . . . g.51755
caccacacccggctaattctttttttttttttttttttttagtagagacgcagttttgcc c.*1140
. . . . . . g.51815
atgttgggcaggctggtctcgaactcctgacctcaggtaatccgcccgcctcagcctccc c.*1200
. . . . . . g.51875
aaagtgctgggattataggcgagagccaccacgctcagtgagtatgacatttttaaaaga c.*1260
. . . . . . g.51935
acagtataaagcataaaatatcccatgtggggcaaactcccagattattttcctaaacaa c.*1320
. . . . . . g.51995
atagaaaaaatgcttcctgaaatagggtaagagaggatgagtcatcaggatccctgaaac c.*1380
. . . . . . g.52055
aaagatctcaaacaggagaccttacgtatattattcatcaatatcttcagtgcaaaaatg c.*1440
. . . . . . g.52115
caaagccattacagaaagggcacatagtaagcttttacatactttccttaggaacagtgc c.*1500
. . . . . . g.52175
ttagaacttaaaattctccatgttttaataaagagtaataattttatggtgaagcaatat c.*1560
. . . . . . g.52235
aagatttaaaattttcagagtatcttccataacagcagtattatttaaagtagtgaaaaa c.*1620
. . . . . . g.52295
ataagacaatttaatatccaatgatagatgattaaaaattggtatgtcaggtgaaataac c.*1680
. . . . . . g.52355
atgcaccaattaagactactggcaaatttgggaaaatgttcgtggtaaatcattaggtaa c.*1740
. . . . . . g.52415
aaaatattataaaacaataaccatatgattaatattgtacaaacaggaagtatatgaacc c.*1800
. . . . . . g.52475
attatatcagtgattctgggtggttgacatataaaaattttgtgatgagtaaagttatat c.*1860
. . . . . . g.52535
gcacatataagtataaatttgtatttatttaagtataaatttgtattcacctatttcata c.*1920
. . . . . . g.52595
ggtgagtgtgtgtgtatagataaacacatggaacaaaaagttaggtatatctgtgtagtg c.*1980
. . . . . . g.52655
tggagggaaaaagctaggaaagaaatacaccaaattattaagtaaattggcatttgaatg c.*2040
. . . . . . g.52715
tggggattattgatgtgtaaaaatttttttgattgtagtctccagaaatcaccaataaag c.*2100
. g.52733
tatatcgtttaaagtgta c.*2118
(downstream sequence)
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