(used for variant description)
(last modified December 6, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_172240.2 in the POC1B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering POC1B transcript NM_172240.2.
(upstream sequence)
g.5007
atcgatc c.-361
. . . . . . g.5067
acaggctcacaacgcccttccattcatcgctcttattccagtcctggttactaccccact c.-301
. . . . . . g.5127
tcctgacatcaaaccagggagaacgcgagtgttagttaacatggcttggtgtgtggccac c.-241
. . . . . . g.5187
agctgacccggcgcatacctcccgtcctctctttacagggctggcggtgtctcggggctc c.-181
. . . . . . g.5247
ggctggccatgcctggagcgcggggtttgactgggccgccgttgttgtagtgaccgggag c.-121
. . . . . . g.5307
gcgctgccgctctgggcagacggttccgggagccgcacggtcccctctccttccccatcc c.-61
. . . . . . g.5367
tctcccctcccctctccgggttcccccacccacaggagccttgggccgaccactcccccg c.-1
. | 02 . . . . . g.6103
ATGGCCTCAGCCACG | GAGGACCCCGTTCTGGAGCGTTATTTCAAAGGCCACAAAGCTGCG c.60
M A S A T | E D P V L E R Y F K G H K A A p.20
. . . . | 03 . . g.33940
ATCACCTCCTTGGACCTCAGCCCCAACGGCAAGCAACTTG | CTACTGCTTCTTGGGATACC c.120
I T S L D L S P N G K Q L A | T A S W D T p.40
. . . . . . g.34000
TTTCTCATGCTATGGAATTTCAAGCCACATGCTAGAGCTTACAGATATGTGGGTCACAAG c.180
F L M L W N F K P H A R A Y R Y V G H K p.60
. . . . . . g.34060
GATGTTGTAACCAGCGTGCAGTTTTCTCCACATGGAAACTTATTGGCGTCTGCCTCACGA c.240
D V V T S V Q F S P H G N L L A S A S R p.80
. . . | 04 . . . g.39175
GACAGAACCGTGAGACTCTGGATTCCTGATAA | GAGAGGAAAATTCTCAGAATTTAAAGCT c.300
D R T V R L W I P D K | R G K F S E F K A p.100
. . . . . . g.39235
CATACAGCTCCAGTTCGAAGTGTAGACTTTTCAGCTGATGGCCAGTTTCTAGCTACAGCT c.360
H T A P V R S V D F S A D G Q F L A T A p.120
. . . . . . g.39295
TCTGAAGACAAATCCATAAAAGTATGGAGCATGTATCGCCAGCGCTTCCTGTATTCCTTG c.420
S E D K S I K V W S M Y R Q R F L Y S L p.140
. . . | 05 . . . g.59015
TATCGACATACACACTGGGTACGCTGTGCCAA | ATTTTCACCCGATGGAAGACTAATTGTG c.480
Y R H T H W V R C A K | F S P D G R L I V p.160
. . . . . . g.59075
TCATGTAGTGAGGATAAAACTATTAAAATTTGGGATACCACAAATAAGCAATGTGTTAAT c.540
S C S E D K T I K I W D T T N K Q C V N p.180
. . | 06 . . . . g.59573
AACTTCTCAGATTCCGTTGG | ATTTGCAAATTTTGTGGACTTTAACCCTAGTGGTACATGC c.600
N F S D S V G | F A N F V D F N P S G T C p.200
. . . . . . g.59633
ATAGCTTCAGCAGGTTCTGATCAAACTGTGAAAGTCTGGGATGTAAGAGTGAACAAATTA c.660
I A S A G S D Q T V K V W D V R V N K L p.220
. | 07 . . . . . g.60812
CTACAGCATTACCAAG | TTCACAGCGGTGGAGTTAATTGCATATCATTCCATCCTTCGGGT c.720
L Q H Y Q V | H S G G V N C I S F H P S G p.240
. . . . . . g.60872
AACTATCTCATCACAGCTTCTTCAGATGGTACCCTTAAGATTCTGGACCTCTTAGAAGGA c.780
N Y L I T A S S D G T L K I L D L L E G p.260
. . . | 08 . . . g.63607
AGGCTCATCTATACACTTCAAGGACATACG | GGACCTGTCTTTACTGTTTCATTTTCAAAA c.840
R L I Y T L Q G H T | G P V F T V S F S K p.280
. . . | 09 . . g.64361
GGTGGAGAGCTATTTGCATCAGGAGGTGCAGACACACAG | GTCTTATTATGGAGGACTAAC c.900
G G E L F A S G G A D T Q | V L L W R T N p.300
. . . . . . g.64421
TTTGATGAATTGCATTGTAAAGGTCTTACCAAAAGAAATCTCAAAAGATTACATTTTGAT c.960
F D E L H C K G L T K R N L K R L H F D p.320
. . . . . . g.64481
TCACCACCACATCTTCTTGATATCTACCCAAGAACACCACATCCCCATGAGGAAAAAGTT c.1020
S P P H L L D I Y P R T P H P H E E K V p.340
. | 10 . . . . . g.71592
GAGACTGTAGAA | ATTAATCCAAAGCTTGAGGTAATCGATTTGCAGATCTCTACTCCCCCT c.1080
E T V E | I N P K L E V I D L Q I S T P P p.360
. . . | 11 . . . g.105910
GTTATGGATATCCTTTCTTTTGATTCTACCACA | ACAACAGAAACCAGTGGTAGGACTCTG c.1140
V M D I L S F D S T T | T T E T S G R T L p.380
. . . . . . g.105970
CCAGACAAGGGTGAAGAGGCCTGTGGATATTTCTTGAACCCTTCCTTAATGTCACCAGAA c.1200
P D K G E E A C G Y F L N P S L M S P E p.400
. . . . . . g.106030
TGTTTGCCAACAACCACGAAAAAGAAAACAGAAGACATGAGTGACCTCCCCTGTGAAAGT c.1260
C L P T T T K K K T E D M S D L P C E S p.420
. . . . . . g.106090
CAAAGGAGCATACCTCTCGCTGTGACTGATGCTTTAGAGCATATTATGGAACAACTCAAT c.1320
Q R S I P L A V T D A L E H I M E Q L N p.440
. | 12 . . . . . g.110053
GTTTTGACACAG | ACTGTTTCAATCTTGGAGCAGCGACTGACTTTGACAGAGGATAAGCTG c.1380
V L T Q | T V S I L E Q R L T L T E D K L p.460
. . . . . g.110110
AAAGACTGCCTTGAAAATCAGCAAAAGCTTTTCAGTGCTGTCCAACAGAAAAGCTGA c.1437
K D C L E N Q Q K L F S A V Q Q K S X p.478
. . . . . . g.110170
ataaaaaattcattttcatttgttgggcagaggcccaataaatgaacaaatgtacataca c.*60
. . . . . . g.110230
ctcaggaaggtagtacaagatactccatacaacacaaccatgtgctatttatcatggcat c.*120
. . . . . . g.110290
ttcttaaaagggtgagcaacagaacaaaaggcagaaaaggcatacctaaggactaattta c.*180
. . . . . . g.110350
aacacatatcaatgtgaaggactaatttaaattactatcatttatgattgcagtaataaa c.*240
. . . . . . g.110410
gtgataagcattcaagcaactctgtattttccccatattattttaaatgtccattttcat c.*300
. . . . . . g.110470
ttataggccaaatcctgccaggaaagtaaccagatctctggatttcactgttaagtcatt c.*360
. . . . . . g.110530
tcagattgaccatattcagacagtcatggggtgaaataattcacttacctccaaaatagc c.*420
. . . . . . g.110590
atcctatatgccaataatgagttattgatctgactagttgtatgtctttctgttcaaaat c.*480
. . . . . . g.110650
agaaattatcctttcttactaatgccttgaaagaatgaacaaataaaaattcccagacca c.*540
. . . . . . g.110710
cagaatttccacagcaagaatacacttattttaattaacaatagcacagatatagcatag c.*600
. . . . . . g.110770
ggcagtgggttttttagttaatttatggcgtactttgtttatccattggccaacctgaag c.*660
. . . . . . g.110830
gaaatgaaactcacctatctttctatcacagatgaatgtgctagatgaatgatttgggtt c.*720
. . . . . . g.110890
gtatctgatcatggttcacaaaaattatgttagtgtgttttcagtatgctaaaaagtcag c.*780
. . . . . . g.110950
agtgatacaaaagtgatatttaaaaatatacacacatgtatgtacacatgcttcagaaat c.*840
. . . . . . g.111010
attgttgcttagggtgatttgggcagctaaatagtaagtactttttaaaatttttgcatc c.*900
. . . . . . g.111070
atcatcttcctatttaatgaattgtgatttaaaacaaaatgaaaataagccaggtattct c.*960
. . . . . . g.111130
aaaagatcctggatacaaattaagaattttgctttattttaaaccaaattgagattaaat c.*1020
. . . . . . g.111190
tgaagaaaagcaagcaaattaatttcagcttgattatcaacctgtatcaagaacaaaaat c.*1080
. . . . . . g.111250
gggaggaggtgtccacatttatggtgtgtataggtaacatggggaaaatgctattctgtg c.*1140
. . . . . . g.111310
ttttggaaaagaagaaatagtgccgtcctatttatttctatatttagaaatttttctcaa c.*1200
. . . . . . g.111370
agaaatttcaattgtatctatgagatgggtttctaagtatcttattgtgtgttataagtg c.*1260
. . . . . . g.111430
ccttttaatatcatactaagtgtgagcttctggacattttcaagagcttacaaaaactaa c.*1320
. . . . . . g.111490
gtggcattgtatttttataaccccattgagaagactaagtaagaaatgaaatgtcctatc c.*1380
. . . . . g.111545
aattttattttgtcatgcttcaaacaataaagacatttctgctttaaaagaaaaa c.*1435
(downstream sequence)
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