(used for variant description)
(last modified March 5, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_012108.2 in the STAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering STAP1 transcript NM_012108.2.
(upstream sequence)
. . g.5022
aacagttgccttttcctctcac c.-61
. . . . . . g.5082
agaaggaagatttcattttgtttgagacgagaaaccaaaccacacaccaaagagaggggt c.-1
. . . . . . g.5142
ATGATGGCTAAGAAGCCCCCAAAACCAGCCCCTCGCAGGATCTTCCAGGAAAGGTTAAAG c.60
M M A K K P P K P A P R R I F Q E R L K p.20
. . . . . . g.5202
ATTACTGCTCTACCTTTGTACTTTGAAGGTTTTTTATTAATCAAGCGGTCAGGATACCGG c.120
I T A L P L Y F E G F L L I K R S G Y R p.40
| 02 . . . . . . g.17416
| GAGTATGAGCATTACTGGACAGAGTTGAGAGGAACTACTCTTTTCTTTTATACCGACAAA c.180
| E Y E H Y W T E L R G T T L F F Y T D K p.60
. | 03 . . . . . g.21705
AAGAGTATAATA | TATGTTGACAAATTAGACATAGTAGACCTCACATGCCTTACTGAGCAG c.240
K S I I | Y V D K L D I V D L T C L T E Q p.80
. . . . . . g.21765
AATTCAACTGAAAAGAACTGTGCGAAATTCACCCTTGTTTTGCCGAAAGAGGAAGTACAA c.300
N S T E K N C A K F T L V L P K E E V Q p.100
| 04 . . . . . . g.23529
CTGAAG | ACAGAGAACACAGAAAGTGGGGAAGAATGGAGAGGCTTCATTCTTACAGTAACA c.360
L K | T E N T E S G E E W R G F I L T V T p.120
| 05 . . . . . . g.27634
GAG | CTGTCAGTTCCCCAAAACGTGTCACTCCTACCTGGGCAAGTAATTAAACTGCATGAA c.420
E | L S V P Q N V S L L P G Q V I K L H E p.140
. . . . . . g.27694
GTCCTAGAGAGAGAAAAGAAAAGGAGGATTGAGACAGAGCAGAGTACGTCCGTGGAAAAA c.480
V L E R E K K R R I E T E Q S T S V E K p.160
. . . . . | 06 . g.29856
GAGAAGGAACCAACTGAAGATTATGTGGATGTACTGAACCCTATGCCAGC | ATGTTTTTAT c.540
E K E P T E D Y V D V L N P M P A | C F Y p.180
. . . . . . g.29916
ACAGTGTCCCGGAAAGAGGCAACTGAGATGCTCCAGAAGAACCCTTCTTTGGGAAATATG c.600
T V S R K E A T E M L Q K N P S L G N M p.200
. . . . . | 07 g.37157
ATCCTGAGGCCTGGTAGTGACAGTAGAAACTACTCCATCACTATTCGGCAGGAGATAGA | C c.660
I L R P G S D S R N Y S I T I R Q E I D | p.220
. . . . . . g.37217
ATTCCAAGAATCAAGCACTACAAAGTGATGAGCGTAGGACAAAACTACACTATTGAACTG c.720
I P R I K H Y K V M S V G Q N Y T I E L p.240
| 08 . . . . . g.39583
GAAAAACCT | GTAACACTCCCAAACCTTTTCAGTGTCATTGATTATTTTGTGAAGGAGACT c.780
E K P | V T L P N L F S V I D Y F V K E T p.260
. . . . | 09 . . g.52582
CGAGGAAATTTAAGACCATTTATATGTTCAACTGATGAAAACACTG | GTCAAGAACCCAGT c.840
R G N L R P F I C S T D E N T G | Q E P S p.280
. . . . g.52630
ATGGAAGGGAGAAGTGAAAAGTTGAAGAAAAATCCACACATTGCATGA c.888
M E G R S E K L K K N P H I A X p.295
. . . . . . g.52690
aatacaatgtgaaagctcctttgtatatcttggtaatttatattttcaaaacgaagttct c.*60
. . . . . . g.52750
tacttttaaagagaattacctatattctcctgatactgattaccaagtcattcacctgaa c.*120
. . . . . . g.52810
caccagaattagaattaaacattgtaccatacaatttcattatcttatcagaatgaaacc c.*180
. . . . . . g.52870
aattcacagggaaactagagactacggctgtggtggtaacctgcagatatacacattccc c.*240
. . . . . . g.52930
atgcactgacataagttgaaaacacatagtactttctagatggaatttttttctttaggc c.*300
. . . . . . g.52990
ctcaatgaaatacatttcccctatataattccaacagcagtttctctagttctaaatttt c.*360
. . . . . . g.53050
accaattcccaaaaaacctaagttttgctgaaatctgatttgaccaatttatcaaatatg c.*420
. . . . . . g.53110
tcattttaattacctagctggaagttagagacatgaaatgtactagaggagcccttttcc c.*480
. . . . . . g.53170
aatggaaatattatataccacattttttgttaatggaaataaatgtcttcattcccatgt c.*540
g.53171
t c.*541
(downstream sequence)
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