(used for variant description)
(last modified November 19, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_003366.2 in the UQCRC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering UQCRC2 transcript NM_003366.2.
(upstream sequence)
. g.5016
gcggcagtatagagag c.-121
. . . . . . g.5076
tacctcacgaaggggacgtgggaaagtgttagcggggaacgctgggaaactcccggcctc c.-61
. . . . . . g.5136
cgccaccatcttgctttcctttaatccggcagtgaccgtgtgtcagaacaatcttgaatc c.-1
. . . | 02 . . . g.8974
ATGAAGCTACTAACCAGAGCCGGCTCTTTCTCG | AGATTTTATTCCCTCAAAGTTGCCCCC c.60
M K L L T R A G S F S | R F Y S L K V A P p.20
. . . . . | 03. g.9132
AAAGTTAAAGCCACAGCTGCGCCTGCAGGAGCACCGCCACAACCTCAGGACCTTGAG | TTT c.120
K V K A T A A P A G A P P Q P Q D L E | F p.40
. . . . . . g.9192
ACCAAGTTACCAAATGGCTTGGTGATTGCTTCTTTGGAAAACTATTCTCCTGTATCAAGA c.180
T K L P N G L V I A S L E N Y S P V S R p.60
. . . . . . g.9252
ATTGGTTTGTTCATTAAAGCAGGCAGTAGATATGAGGACTTCAGCAATTTAGGAACCACC c.240
I G L F I K A G S R Y E D F S N L G T T p.80
. . | 04. . . . g.10280
CATTTGCTGCGTCTTACATCCAGTCTG | ACGACAAAAGGAGCTTCATCTTTCAAGATAACC c.300
H L L R L T S S L | T T K G A S S F K I T p.100
. . . | 05 . . . g.14200
CGTGGAATTGAAGCAGTTGGTGGCAAATTAAG | TGTGACCGCAACAAGGGAAAACATGGCT c.360
R G I E A V G G K L S | V T A T R E N M A p.120
. . | 06 . . . g.14504
TATACTGTGGAATGCCTGCGGGGTGATGT | TGATATTCTAATGGAGTTCCTGCTCAATGTC c.420
Y T V E C L R G D V | D I L M E F L L N V p.140
. . . . . . g.14564
ACCACAGCACCAGAATTTCGTCGTTGGGAAGTAGCTGACCTTCAGCCTCAGCTAAAGATT c.480
T T A P E F R R W E V A D L Q P Q L K I p.160
. . . | 07 . . . g.17146
GACAAAGCTGTGGCCTTTCAGAATCCGCAGACTC | ATGTCATTGAAAATTTGCATGCAGCA c.540
D K A V A F Q N P Q T H | V I E N L H A A p.180
. . . . . . g.17206
GCTTACCGGAATGCCTTGGCTAATCCCTTGTATTGTCCTGACTATAGGATTGGAAAAGTG c.600
A Y R N A L A N P L Y C P D Y R I G K V p.200
. | 08 . . . . . g.20388
ACATCAGAGGAG | TTACATTACTTCGTTCAGAACCATTTCACAAGTGCAAGAATGGCTTTG c.660
T S E E | L H Y F V Q N H F T S A R M A L p.220
. | 09 . . . . . g.23287
ATTGGACTTG | GTGTGAGTCATCCTGTTCTAAAGCAAGTTGCTGAACAGTTTCTCAACATG c.720
I G L G | V S H P V L K Q V A E Q F L N M p.240
. . . . | 10 . . g.23649
AGGGGTGGGCTTGGTTTATCTGGTGCAAAGGCCAACTACCGTGGAG | GTGAAATCCGAGAA c.780
R G G L G L S G A K A N Y R G G | E I R E p.260
. . . . . . g.23709
CAGAATGGAGACAGTCTTGTCCATGCTGCTTTTGTAGCAGAAAGTGCTGTCGCGGGAAGT c.840
Q N G D S L V H A A F V A E S A V A G S p.280
. . . . . . g.23769
GCAGAGGCAAATGCATTTAGTGTTCTTCAGCATGTCCTCGGTGCTGGGCCACATGTCAAG c.900
A E A N A F S V L Q H V L G A G P H V K p.300
. . . . . . g.23829
AGGGGCAGCAACACCACCAGCCATCTGCACCAGGCTGTTGCCAAGGCAACTCAGCAGCCA c.960
R G S N T T S H L H Q A V A K A T Q Q P p.320
| 11 . . . . . . g.25662
TTTGAT | GTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACT c.1020
F D | V S A F N A S Y S D S G L F G I Y T p.340
. . | 12. . . . g.27912
ATCTCCCAGGCCACAGCTGCTGGAGAT | GTTATCAAGGCTGCCTATAATCAAGTAAAAACA c.1080
I S Q A T A A G D | V I K A A Y N Q V K T p.360
. . . . | 13 . . g.32275
ATAGCTCAAGGAAACCTTTCCAACACAGATGTCCAAGCTGCCAA | GAACAAGCTGAAAGCT c.1140
I A Q G N L S N T D V Q A A K | N K L K A p.380
. . . . . . g.32335
GGATACCTAATGTCAGTGGAGTCTTCTGAGTGTTTCCTGGAAGAAGTCGGGTCCCAGGCT c.1200
G Y L M S V E S S E C F L E E V G S Q A p.400
. . . . . . g.32395
CTAGTTGCTGGTTCTTACATGCCACCATCCACAGTCCTTCAGCAGATTGATTCAGTGGCT c.1260
L V A G S Y M P P S T V L Q Q I D S V A p.420
. | 14 . . . . g.34842
AATGCTGATATCATAAAT | GCGGCAAAGAAGTTTGTTTCTGGCCAGAAGTCAATGGCAGCA c.1320
N A D I I N | A A K K F V S G Q K S M A A p.440
. . . . g.34884
AGTGGAAATTTGGGACATACACCTTTTGTTGATGAGTTGTAA c.1362
S G N L G H T P F V D E L X p.453
. . . . . . g.34944
tactgatgcacacattacaggagagagctgaacgttctctcagcccagagcagcaaacac c.*60
. . . . . . g.35004
atgaaagtcagaagtctctaatatatcatttgtcttttttccagtgaggtaaaataaggc c.*120
. . . . . g.35060
ataaatgcaggtaattattcccagctgacctaaagtcaataaaacattctgtttaa c.*176
(downstream sequence)
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