(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018475.4 in the TMEM165 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032881.1, covering TMEM165 transcript NM_018475.4.
(upstream sequence)
. . . g.5037
gggccgggaggagtcggggctgggccgcgccgaggca c.-241
. . . . . . g.5097
gctggctgactccagtttagccgccgccggagaggacgggcgccgagccggggctgcgga c.-181
. . . . . . g.5157
cttcggcctgcccctcacctcactcccgctgcttgcacctcccggatggtgctgactgct c.-121
. . . . . . g.5217
ccctaagcggcggcggcggcgagtcgtgaggacgcgccgcggaggctgttcggggtcgag c.-61
. . . . . . g.5277
gcttcccgtcgccggcacttcctcttgcggcgcccgtgcgcggccggcccggcaggcggg c.-1
. . . . . . g.5337
ATGGCGGCCGCGGCTCCAGGGAACGGCCGCGCATCGGCGCCCCGGCTGCTTCTGCTCTTT c.60
M A A A A P G N G R A S A P R L L L L F p.20
. . . . . . g.5397
CTGGTTCCGCTGCTGTGGGCCCCGGCTGCGGTCCGGGCCGGCCCAGATGAAGACCTTAGC c.120
L V P L L W A P A A V R A G P D E D L S p.40
. . . . . . g.5457
CACCGGAACAAAGAACCGCCGGCGCCGGCCCAGCAGCTGCAGCCGCAGCCTGTGGCTGTG c.180
H R N K E P P A P A Q Q L Q P Q P V A V p.60
. . | 02. . . . g.20734
CAGGGCCCCGAGCCGGCCCGGGTCGAG | AAAATATTTACACCAGCAGCTCCAGTTCATACC c.240
Q G P E P A R V E | K I F T P A A P V H T p.80
. . . . . . g.20794
AATAAAGAAGATCCTGCTACCCAAACTAATTTGGGATTTATCCATGCATTTGTCGCTGCC c.300
N K E D P A T Q T N L G F I H A F V A A p.100
. . . . . . g.20854
ATATCAGTTATTATTGTATCTGAATTGGGTGATAAGACATTTTTTATAGCAGCCATCATG c.360
I S V I I V S E L G D K T F F I A A I M p.120
. . . . . . g.20914
GCAATGCGCTATAACCGCCTGACCGTGCTGGCTGGTGCAATGCTTGCCTTGGGACTAATG c.420
A M R Y N R L T V L A G A M L A L G L M p.140
. | 03 . . . . . g.26206
ACATGCTTGTCAG | TTTTGTTTGGCTATGCCACCACAGTCATCCCCAGGGTCTATACATAC c.480
T C L S V | L F G Y A T T V I P R V Y T Y p.160
. . . . . . g.26266
TATGTTTCAACTGTATTATTTGCCATTTTTGGCATTAGAATGCTTCGGGAAGGCTTAAAG c.540
Y V S T V L F A I F G I R M L R E G L K p.180
. . . . . . g.26326
ATGAGCCCTGATGAGGGTCAAGAGGAACTGGAAGAAGTTCAAGCTGAATTAAAGAAGAAA c.600
M S P D E G Q E E L E E V Q A E L K K K p.200
| 04 . . . . . g.26941
GATGAAGAA | TTTCAACGAACCAAACTTTTAAATGGACCGGGAGATGTTGAAACGGGTACA c.660
D E E | F Q R T K L L N G P G D V E T G T p.220
. . . . . . g.27001
AGCATAACAGTACCTCAGAAAAAGTGGTTGCATTTTATTTCACCCATTTTTGTTCAAGCT c.720
S I T V P Q K K W L H F I S P I F V Q A p.240
. . . . . . g.27061
CTTACATTAACATTCTTAGCAGAATGGGGTGATCGCTCTCAACTAACTACAATTGTATTG c.780
L T L T F L A E W G D R S Q L T T I V L p.260
. | 05 . . . . . g.33673
GCAGCTAGAGAG | GACCCCTATGGTGTAGCCGTGGGTGGAACTGTGGGGCACTGCCTGTGC c.840
A A R E | D P Y G V A V G G T V G H C L C p.280
. . . . . | 06 g.34465
ACGGGATTGGCAGTAATTGGAGGAAGAATGATAGCACAGAAAATCTCTGTCAGAACTG | TG c.900
T G L A V I G G R M I A Q K I S V R T V | p.300
. . . . . . g.34525
ACAATCATAGGAGGCATCGTTTTTTTGGCGTTTGCATTTTCTGCACTATTTATAAGCCCT c.960
T I I G G I V F L A F A F S A L F I S P p.320
. g.34540
GATTCTGGTTTTTAA c.975
D S G F X p.324
. . . . . . g.34600
caagctgtttgttcatctatatttagtttaaaataggtagtattatctttctgtacatag c.*60
. . . . . . g.34660
tgtacattacaactaaaagtgatggaaaaatactgtattttgtagcactgattttgtgag c.*120
. . . . . . g.34720
tttgacccattattatgtctgagatataatcattgattctatttgtaacaaggagtttta c.*180
. . . . . . g.34780
aaagaaacctgacttctaagtgtgggtttttcttctctccaacataattatgttaatatg c.*240
. . . . . . g.34840
gtcctcatttttcttttggtgcagaaccgttgtgcagtggggtctaccatgcaattttct c.*300
. . . . . . g.34900
ttcagcactgacccctttttaaggaatacaaattttctccttcatcacttaggtgtttta c.*360
. . . . . . g.34960
agatgtttaccttaaagtttttcttggggaaagaatgaattaatttctatttcttaaaac c.*420
. . . . . . g.35020
atttccctgagccagtaaacagtagtttaatcattggtcttttcaaaactaggtgtttaa c.*480
. . . . . . g.35080
aaaaagagacatatatgatattgctgttatatcaataacatggcacaacaagaactgtct c.*540
. . . . . . g.35140
gccaggtcattcttcctcttttttttttaattgggtaggacacccaatataaaaacagtc c.*600
. . . . . . g.35200
aatatttgacaatgtggaattaccaaattaaaagagaatactatgaatgtattcatattt c.*660
. . . . . . g.35260
tttctatattgaataaacaatgtaacatagataacaatataaataaaagtggtatgacca c.*720
g.35263
gtg c.*723
(downstream sequence)
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