(used for variant description)
(last modified April 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016370.2 in the RAB9B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016452.1, covering RAB9B transcript NM_016370.2.
(upstream sequence)
. . . g.5039
ccctggcgggcgcgggcgcgggctcgagacgctgcgcgg c.-301
. . . . . . g.5099
cggcagcggcgggcgcgagcggcagctgtcaggccaccgaggtccaagccgcacttgctg c.-241
. . . . . . g.5159
ccccattgaggacgaggaggcagcaggagcagtgacggtgactctaaggagccggattcc c.-181
. . . . . . g.5219
cggcacgcagagctgacctgcctggcacccgcggccctctcctgtttccttcccattgtg c.-121
. | 02 . . . . . g.10260
ttgg | caccctaaaaagaaagaataaaacaacaacaggaaaaaaaggaaaatatttaaatt c.-61
. . | 03. . . . g.11498
gtgacaaaaacccactgg | gttctcttggttacaaactccttcccttctggtgctgcaaaa c.-1
. . . . . . g.11558
ATGAGTGGGAAATCCCTGCTCTTAAAGGTCATTCTCTTGGGTGATGGTGGAGTTGGGAAA c.60
M S G K S L L L K V I L L G D G G V G K p.20
. . . . . . g.11618
AGTTCGCTTATGAACCGTTACGTAACCAACAAATTTGACTCCCAGGCTTTTCACACCATA c.120
S S L M N R Y V T N K F D S Q A F H T I p.40
. . . . . . g.11678
GGGGTAGAGTTCTTAAATCGAGATCTGGAGGTAGATGGACGCTTTGTAACCCTCCAGATC c.180
G V E F L N R D L E V D G R F V T L Q I p.60
. . . . . . g.11738
TGGGACACTGCAGGGCAGGAACGTTTCAAGAGCCTTAGGACACCCTTCTACAGGGGAGCA c.240
W D T A G Q E R F K S L R T P F Y R G A p.80
. . . . . . g.11798
GACTGCTGCCTCTTGACCTTCAGCGTGGATGATCGGCAGAGCTTCGAGAATCTTGGTAAC c.300
D C C L L T F S V D D R Q S F E N L G N p.100
. . . . . . g.11858
TGGCAGAAAGAATTTATTTACTATGCGGATGTGAAGGACCCTGAGCATTTCCCCTTTGTA c.360
W Q K E F I Y Y A D V K D P E H F P F V p.120
. . . . . . g.11918
GTTCTGGGTAACAAGGTAGACAAAGAGGATAGGCAAGTGACTACTGAGGAGGCACAAACC c.420
V L G N K V D K E D R Q V T T E E A Q T p.140
. . . . . . g.11978
TGGTGCATGGAGAATGGGGATTACCCTTATTTAGAAACTAGTGCCAAAGATGATACTAAT c.480
W C M E N G D Y P Y L E T S A K D D T N p.160
. . . . . . g.12038
GTGACAGTGGCCTTTGAAGAAGCTGTCAGGCAGGTGCTGGCTGTAGAGGAACAGCTGGAG c.540
V T V A F E E A V R Q V L A V E E Q L E p.180
. . . . . . g.12098
CATTGCATGTTGGGTCACACCATTGACTTGAACAGTGGCTCCAAAGCAGGGTCTTCGTGC c.600
H C M L G H T I D L N S G S K A G S S C p.200
g.12104
TGTTAA c.606
C X p.201
. . . . . . g.12164
agatagggagccttttaaaaatgtgccccaaattgatcagtcagtagtgtaagaataact c.*60
. . . . . . g.12224
gtgcccctctaagagtgcacacacacgcacacaagagggtaagagacaaggttctgattg c.*120
. . . . . . g.12284
tgaaacagagcctttcaaattgaagtgtagattgatttaaaaaaattaaaaattaaaaaa c.*180
. . . . . . g.12344
aatgaagctctatcaagccaagtgtattttgcgtgatttctgctatttccccttcttgtg c.*240
. . . . . . g.12404
tgtctcaggacatatcagaaaattttagtcctgagacagttaaatattttttaaatcaca c.*300
. . . . . . g.12464
gtttaaacctagaacccagctgcatgaaggagttaaagagctacaactatttcttaaagt c.*360
. . . . . . g.12524
gttccattaatcaactaacaaatgtcactatcagactcttgccaagcagtttctgacatt c.*420
. . . . . . g.12584
tctgccaaaggggaaaaaaatcagactttgagctgtattacaataaaaataataatgcaa c.*480
. . . . . . g.12644
ataaggattcctaggcttgaattaaagaagttgtaatgattaggagtgcaaaagtataat c.*540
. . . . . . g.12704
gatatacactgacttgtttaaatccttatgtatggttcgctcccatctgagcttttcaaa c.*600
. . . . . . g.12764
aaatcccatctcaataagagatactctaatgacactggcaattgattatacttcttgtgt c.*660
. . . . . . g.12824
ttgaagtcataggatactagtgaatggattatgcttaaatatgccaaccacctttgcaaa c.*720
. . . . . . g.12884
taaatggttggtctgcttttaattcctaagtctacttttgctgcatagagatgttgcttc c.*780
. . . . . . g.12944
tctgacaacctcttaccaatttagcaatgctgcttagtatatgaatttggatgcagtgct c.*840
. . . . . . g.13004
ctctgctcatcatttagatggtcctttgatccaacatgctgggctcatggagaaggcttc c.*900
. . . . . . g.13064
ataaaagattgggggataatgaacttttctcacaaggctccttaactcaaatatttattg c.*960
. . . . . . g.13124
cagaagaaggaactggtttcttatatgttgcactgtatgttcaactagcctaattaggac c.*1020
. . . . . . g.13184
attgaaagtgacagaagagcagatcttaacccagtgttagaatgaatttcccataaacag c.*1080
. . . . . . g.13244
agttgtccaacagtggaatggactgccttaatagtgagctccctgcctctgaaaatattc c.*1140
. . . . . . g.13304
actggatgaccatctgttagaataccataaaaagattttctgtgctggctacatgttcaa c.*1200
. . . . . . g.13364
tataaagtcctttctggctctaagttctatgaatatataaactacatcagtgccatgctg c.*1260
. . . . . . g.13424
tggttagatttatctgatgataacagctaagactatggagagggactttaaaaattctca c.*1320
. . . . . . g.13484
aaccattctgtgatcaatctttaacagcaactacatagctcttccttttgcttttgcact c.*1380
. . . . . . g.13544
gtggcaggaaaaattcttgagctctgagtaatctttatgtgactgataaaaaacatctta c.*1440
. . . . . . g.13604
aagctcccatgttaaaatataaaaatggtttgacaatttttgattaccatgactgtcagt c.*1500
. . . . . . g.13664
tatatactatattatgaatatgcagtgtggttcttgttggttgatctgtttaccctgcat c.*1560
. . . . . . g.13724
agattttaatctgtactttaaaacatctatgataaaaatagtgacagacagaaattaccc c.*1620
. . . . . . g.13784
caaaaagagacctaggccaggaagggggtgggagctttcataggaatacagcctagaact c.*1680
. . . . . . g.13844
ctccattgtagccacgtatggaatcagccttacttacatgtaggacctttgtgctttaag c.*1740
. . . . . . g.13904
agctctgggacatattggccaaatagaaaagaagaggacagtatttcaactcagtcatac c.*1800
. . . . . . g.13964
tcaatatttccaattaagatataatcctgacaccattgttcaattaactttgacgccaga c.*1860
. . . . . . g.14024
agtcaaagccagaactgggaccccacagctcttaagtactggtccctatcctgcctatgc c.*1920
. . . . . . g.14084
ctatagccagccacactggtttccaagttctgtgatcattttgctacaatcatgttaggg c.*1980
. . . . . . g.14144
tgaaaatctgtacgtcagaactgttaaatgctaattatttttaagtgcatgagacctggg c.*2040
. . . . . . g.14204
gccttctctttctacttgcactctgcttatactagtttctatttgtagatctcaggcctt c.*2100
. . . . . . g.14264
catcataaagacctctatcaactcacaaaagtatttgtctctattagagtggcatgtggt c.*2160
. . . . . . g.14324
catttgagtaaaaaaaaaaaaattacatgggtatcggattcataggcatcctgtccatct c.*2220
. . . . . . g.14384
aagacaagtgttaattttattggcccatcagctggagcccctttcctcttagccatacca c.*2280
. . . . . . g.14444
ttgttttctaccaaattaccactcaatatcttaatgaaagcactcaacattaagtgacat c.*2340
. . . . . . g.14504
aaacagtggcatttgggtaagcaacactcagtggggtgctgacatacagtttgggtaaga c.*2400
. . . . . . g.14564
ttaaaaaacaccaaaggctgaaatctgtgagtaccaagaactgtgcatataggtttagaa c.*2460
. . . . . . g.14624
attgactgtgtaccctagaatgtgcagtgtaatattttcaataggtgtttttttaaagaa c.*2520
. . . . . . g.14684
cactagatttttggaataatatatttctaattaggactatactgtttttcaatggtctgt c.*2580
. . . . . . g.14744
taaaacatcatacagaatatttatttagtttattgtcatgtattggctaactttcagggg c.*2640
. . . . . . g.14804
cctcagattccatatgtcttcagtggattgatgaatatcaggttaatttgtgcctgcccc c.*2700
. . . . . . g.14864
agccatctctactttattctgaggtattccacaatcctcttgttgcaggtgctgctaaaa c.*2760
. . . . . . g.14924
aaaactcaaaattgtgtatcaaatattttctttcaactgtaaaaaatcatctgtgttaaa c.*2820
. . . g.14958
gtgaataaaaagtgcattttgaataaccagcaca c.*2854
(downstream sequence)
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