(used for variant description)
(last modified June 27, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_030777.3 in the SLC2A10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016284.1, covering SLC2A10 transcript NM_030777.3.
(upstream sequence)
. . . g.5037
ggaaagtttgtccggcggcagcggcgttggggactcc c.-61
. . . . . . g.5097
ggcgggggatgcgcgcccggcccctcagcgcccccagcacgccgccgagtcccgctcgcc c.-1
| 02 . . . . . . g.20457
ATGG | GCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTG c.60
M G | H S P P V L P L C A S V S L L G G L p.20
. . . . . . g.20517
ACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTT c.120
T F G Y E L A V I S G A L L P L Q L D F p.40
. . . . . . g.20577
GGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTC c.180
G L S C L E Q E F L V G S L L L G A L L p.60
. . . . . . g.20637
GCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGG c.240
A S L V G G F L I D C Y G R K Q A I L G p.80
. . . . . . g.20697
AGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGG c.300
S N L V L L A G S L T L G L A G S L A W p.100
. . . . . . g.20757
CTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGT c.360
L V L G R A V V G F A I S L S S M A C C p.120
. . . . . . g.20817
ATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAG c.420
I Y V S E L V G P R Q R G V L V S L Y E p.140
. . . . . . g.20877
GCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACC c.480
A G I T V G I L L S Y A L N Y A L A G T p.160
. . . . . . g.20937
CCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTC c.540
P W G W R H M F G W A T A P A V L Q S L p.180
. . . . . . g.20997
AGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCA c.600
S L L F L P A G T D E T A T H K D L I P p.200
. . . . . . g.21057
CTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGAC c.660
L Q G G E A P K L G P G R P R Y S F L D p.220
. . . . . . g.21117
CTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTC c.720
L F R A R D N M R G R T T V G L G L V L p.240
. . . . . . g.21177
TTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCC c.780
F Q Q L T G Q P N V L C Y A S T I F S S p.260
. . . . . . g.21237
GTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAG c.840
V G F H G G S S A V L A S V G L G A V K p.280
. . . . . . g.21297
GTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTG c.900
V A A T L T A M G L V D R A G R R A L L p.300
. . . . . . g.21357
CTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCC c.960
L A G C A L M A L S V S G I G L V S F A p.320
. . . . . . g.21417
GTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGC c.1020
V P M D S G P S C L A V P N A T G Q T G p.340
. . . . . . g.21477
CTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAAT c.1080
L P G D S G L L Q D S S L P P I P R T N p.360
. . . . . . g.21537
GAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCT c.1140
E D Q R E P I L S T A K K T K P H P R S p.380
. . . . . . g.21597
GGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTG c.1200
G D P S A P P R L A L S S A L P G P P L p.400
. . . . . . g.21657
CCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTC c.1260
P A R G H A L L R W T A L L C L M V F V p.420
. . | 03 . . . g.22256
AGTGCCTTCTCCTTTGGGTTTGGGCCAG | TGACCTGGCTTGTCCTCAGCGAGATCTACCCT c.1320
S A F S F G F G P V | T W L V L S E I Y P p.440
. . . . . . g.22316
GTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTC c.1380
V E I R G R A F A F C N S F N W A A N L p.460
. . . | 04 . . . g.24742
TTCATCAGCCTCTCCTTCCTCGATCTCATTG | GCACCATCGGCTTGTCCTGGACCTTCCTG c.1440
F I S L S F L D L I G | T I G L S W T F L p.480
. . . . . . g.24802
CTCTACGGACTGACCGCTGTCCTCGGCCTGGGCTTCATCTATTTATTTGTTCCTGAAACA c.1500
L Y G L T A V L G L G F I Y L F V P E T p.500
. . . . | 05. . g.29129
AAAGGCCAGTCGTTGGCAGAGATAGACCAGCAGTTCCAGAAGAGACG | GTTCACCCTGAGC c.1560
K G Q S L A E I D Q Q F Q K R R | F T L S p.520
. . . . . . g.29189
TTTGGCCACAGGCAGAACTCCACTGGCATCCCGTACAGCCGCATCGAGATCTCTGCGGCC c.1620
F G H R Q N S T G I P Y S R I E I S A A p.540
g.29195
TCCTGA c.1626
S X p.541
. . . . . . g.29255
ggaatccgtctgcctggaaattctggaactgtggctttggcagaccatctccagcatcct c.*60
. . . . . . g.29315
gcttcctaggccccagagcacaagttccagctggtcttttgggagtggcccctgccccca c.*120
. . . . . . g.29375
aaggtggtctgcttttgctggggtaaaaaggatgaaagtctgagaatgcccaactcttca c.*180
. . . . . . g.29435
ttttgagtctcaggccctgaaggttcctgaggatctagcttcatgcctcagtttccccat c.*240
. . . . . . g.29495
tgacttgcacatctctgcagtatttataagaagaatattctatgaagtctttgttgcacc c.*300
. . . . . . g.29555
atggacttttctcaaagaatctcaagggtaccaatcctggcaggaagtctctcccgatat c.*360
. . . . . . g.29615
cacccctaaatccaaatgaggatatcatcttttctaatctcttttttcaactggctggga c.*420
. . . . . . g.29675
cattttcggaagggggaagtctctttttttactcttatcattttttttttttgaggtgga c.*480
. . . . . . g.29735
gtctcattctgttgcccaggctggcctgatcttggctcactgcaacctccacctcctgag c.*540
. . . . . . g.29795
ttcaagcgattcttgtgcctcagcctcctaagcagctgggactacaggcgcatgcaacca c.*600
. . . . . . g.29855
tacccagctaatttatttttagcagagatggggtttcactgtgttggccaggctggtcgt c.*660
. . . . . . g.29915
gaactcctgagctcaagtgatccacccacctcagcctcccagagtgctaggattacaggc c.*720
. . . . . . g.29975
cttttgactcttttatctgagttttattgacccctctaattctcttacccagaatattta c.*780
. . . . . . g.30035
tccttcaccagcaactctgactctttgacgggaggcctcagttctagtccttggtctgct c.*840
. . . . . . g.30095
ggtgtcattgctgtaggaatgaccacgggcctcagtttccccatttgtataatgggaagc c.*900
. . . . . . g.30155
ctgtaccaggtcattcttaagatttctcctgactccagtgagctggaattctaaatgctg c.*960
. . . . . . g.30215
gtctaggagctgtctccaggatggtgcaggatggctttgcggaaaggagatgggtttgga c.*1020
. . . . . . g.30275
ggccaacaaacctgcttgtcaatattgcctttgcctcttggcagcccttgaacttgagta c.*1080
. . . . . . g.30335
aataacaactccctgaacctcagtttcctcatctgcagaatggggataattatgtcccag c.*1140
. . . . . . g.30395
gggtatatttagaccctgtttcctttcaggagggtccccagctggtccagggcctgggaa c.*1200
. . . . . . g.30455
atttctacttatcctcattacccaggtccctcctttggaccctgtaaagggtcagggtga c.*1260
. . . . . . g.30515
atcagatgggggactgagcaagtagctatgactgcagatcatgtaaggaagggactgaca c.*1320
. . . . . . g.30575
agaagctcccagatgctggggagaatgaagagctaaaatagatcctaggtgctggatgct c.*1380
. . . . . . g.30635
ttgtcatccatgcgtgcacatatgggtgctggcagagcccccaaggactctggcctctcg c.*1440
. . . . . . g.30695
agttctcctatcttctccattctagatgcttcccttgtatccagtgatgtgctggagctg c.*1500
. . . . . . g.30755
gctttgccaagcttgtgagagctggttgctacattttcaggatttttacaagttggtaaa c.*1560
. . . . . . g.30815
cacagccattataaaaaattaaatgatttaaatttataattaagtaaattacattaaaac c.*1620
. . . . . . g.30875
aaaaaaattatactcaaaattcattacttaattttactacctgttactattatctgtgct c.*1680
. . . . . . g.30935
tttgaggctatttctacatagtaactcttatggagacctaggggagacaccgcgcatctc c.*1740
. . . . . . g.30995
ttcctgattccccactcaatgacatcatgttagtctttggttgcttaactggctgtgggg c.*1800
. . . . . . g.31055
agtgtttttgtatcacaaagattagagaggactacacatcagggcttgatttattgtttg c.*1860
. . . . . . g.31115
ttgattttctagacttcagaacatgctggataaaatgtcagtaatgcaaattaaacttta c.*1920
. . . . . . g.31175
aagtatgtcttgtttgtagccaatacatggtgtatagcaccaaaaaatggagggattatt c.*1980
. . . . . . g.31235
cttccagtagttgaacactgtcatccgtttcagctgacagctgctcaaatcatttaagaa c.*2040
. . . . . . g.31295
ggagttctgacattcattttcattgttttacttttgtcttcctcactagtgtaaacaaaa c.*2100
. . . . . . g.31355
atttcaaccagcattcatgccgaacctatacccattcttcagtgcctagctgtacagtta c.*2160
. . . . . . g.31415
tcagggatttttatttgtagtctaattttgtcaaatcatggccaaatcgcagtgatagtt c.*2220
. . . . . . g.31475
gactttggatacaaggtttggcaaaaaaaaaaatattaacaaaatattctgtaagaatca c.*2280
. . . . . . g.31535
attgtctatatggaatttaggataaagaatatttacaataaagaatatttacaataaaga c.*2340
. . . . . . g.31595
gtttattattatttgtaagttgtgtgcaacaaacataccctttatctctgtaaaatttat c.*2400
. . . . . . g.31655
acacacaaaaattaacaaaagattctgtaagaattaattggctatatggaatttaggata c.*2460
. . . . . g.31708
gaatatttacaataaagagtatttacaataaagagtttgttattatttgtaaa c.*2513
(downstream sequence)
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