(used for variant description)
(last modified February 13, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006749.4 in the SLC20A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032161.1, covering SLC20A2 transcript NM_006749.4.
(upstream sequence)
. . . . . g.5057
aaagccacacaggcctgggcgtggaggcgcggggctgttatacacacgactcccaaa c.-601
. . . . . . g.5117
cctgaactcttccagtcttggccccgatcctgcgagacctgctccttccggaagaaagtc c.-541
. . . . . . g.5177
aagtggagcagggagaaaatgtaatcctctcccaggaagcagcccgggtcccagggcggc c.-481
. . . . . . g.5237
gaggctctagggacgtttccgccgcccgcaggctgcgcgtgattcagcctcaaccctccc c.-421
. . . . . . g.5297
gccgagcccccgccgccccggcagatgggccgccgcaactggcccgtgtgcgcttccgga c.-361
. . . . . . g.5357
agcgggcgactcgcagctccacgcgacgccgaggggctccgcgccgggaccgggcgggtg c.-301
. . . . | 02 . . g.72208
ctcggagtttcggggaccgcacgggaccgagggcag | gaggagacatcacagctttcccag c.-241
. . . . . . g.72268
atcgggaggaaaaatatggaatgtgttttaccgctgactgaacacaaccaaatgaactgt c.-181
. . . . . . g.72328
cctgacagtagtttgcaaaccagcagctagcagtttgtccagcctctaacattgtccagc c.-121
. . . . . . g.72388
actttccagagcaaactcactgtttacaagaactcttggccttacgaagtttataacctc c.-61
. . . . . . g.72448
aagctttgtttatttaaaatattcctgcaaaagaaaagtacccggcacccactttccaaa c.-1
. . . . . . g.72508
ATGGCCATGGATGAGTATTTGTGGATGGTCATTTTGGGTTTCATCATAGCTTTCATCTTG c.60
M A M D E Y L W M V I L G F I I A F I L p.20
. . . . . . g.72568
GCCTTTTCTGTTGGTGCAAACGATGTTGCCAACTCCTTTGGTACAGCCGTGGGCTCTGGT c.120
A F S V G A N D V A N S F G T A V G S G p.40
. . . . . . g.72628
GTGGTGACCTTGAGGCAGGCATGCATTTTAGCTTCAATATTTGAAACCACCGGCTCCGTG c.180
V V T L R Q A C I L A S I F E T T G S V p.60
. . . . . . g.72688
TTACTAGGCGCCAAAGTAGGAGAAACCATTCGCAAAGGTATCATTGACGTGAACCTGTAC c.240
L L G A K V G E T I R K G I I D V N L Y p.80
. . . . | 03 . g.78932
AACGAGACGGTGGAGACTCTCATGGCTGGGGAAGTTAGTGCCATGGTTG | GTTCCGCTGTG c.300
N E T V E T L M A G E V S A M V G | S A V p.100
. . . . . . g.78992
TGGCAGCTGATTGCTTCCTTCCTGAGGCTTCCAATCTCAGGAACGCACTGCATTGTGGGT c.360
W Q L I A S F L R L P I S G T H C I V G p.120
. . . . . . g.79052
TCTACTATAGGATTCTCACTGGTCGCAATCGGTACCAAAGGTGTGCAGTGGATGGAGCTT c.420
S T I G F S L V A I G T K G V Q W M E L p.140
. | 04 . . . . . g.81798
GTCAAGATTG | TTGCTTCTTGGTTTATATCTCCACTGTTGTCTGGTTTCATGTCTGGCCTG c.480
V K I V | A S W F I S P L L S G F M S G L p.160
. . . | 05 . . . g.84870
CTGTTTGTACTCATCAGAATTTTCATCTTAAAAAAG | GAAGACCCTGTTCCCAATGGCCTC c.540
L F V L I R I F I L K K | E D P V P N G L p.180
. . . . . . g.84930
CGGGCACTCCCAGTATTCTATGCTGCTACCATAGCAATCAATGTCTTTTCCATCATGTAC c.600
R A L P V F Y A A T I A I N V F S I M Y p.200
. | 06 . . . . . g.100123
ACAGGAGCACCAG | TGCTCGGCCTTGTTCTCCCCATGTGGGCCATAGCCCTCATTTCCTTT c.660
T G A P V | L G L V L P M W A I A L I S F p.220
. . . . . . g.100183
GGTGTCGCCCTCCTGTTCGCTTTTTTTGTGTGGCTCTTCGTGTGTCCGTGGATGCGGAGG c.720
G V A L L F A F F V W L F V C P W M R R p.240
. | 07 . . . . . g.105235
AAAATAACAG | GCAAATTACAAAAAGAAGGTGCTTTATCACGAGTATCTGACGAAAGCCTC c.780
K I T G | K L Q K E G A L S R V S D E S L p.260
. . . . . . g.105295
AGTAAGGTTCAGGAAGCAGAGTCCCCAGTATTTAAAGAGCTACCAGGTGCCAAGGCTAAT c.840
S K V Q E A E S P V F K E L P G A K A N p.280
. . . . . . g.105355
GATGACAGCACCATCCCGCTCACGGGAGCAGCAGGGGAGACACTGGGGACCTCGGAAGGC c.900
D D S T I P L T G A A G E T L G T S E G p.300
. . . | 08 . . . g.107287
ACTTCTGCGGGCAGCCACCCTCGGGCTGCATACG | GAAGAGCACTGTCCATGACCCATGGC c.960
T S A G S H P R A A Y G | R A L S M T H G p.320
. . . . . . g.107347
TCTGTGAAATCGCCCATCTCCAACGGCACCTTCGGCTTCGACGGCCACACCAGGAGCGAC c.1020
S V K S P I S N G T F G F D G H T R S D p.340
. . . . . . g.107407
GGTCATGTGTACCACACCGTGCACAAAGACTCGGGGCTCTACAAAGATCTGCTGCACAAA c.1080
G H V Y H T V H K D S G L Y K D L L H K p.360
. . . . . . g.107467
ATCCACATCGACAGGGGCCCCGAGGAGAAGCCAGCCCAGGAAAGCAACTACCGGCTGCTG c.1140
I H I D R G P E E K P A Q E S N Y R L L p.380
. . . . . . g.107527
CGCCGAAACAACAGTTACACCTGCTACACCGCAGCCATTTGTGGGCTGCCAGTGCACGCC c.1200
R R N N S Y T C Y T A A I C G L P V H A p.400
. . . . . . g.107587
ACCTTTCGAGCTGCGGACTCATCGGCCCCAGAGGACAGTGAGAAGCTGGTGGGCGACACC c.1260
T F R A A D S S A P E D S E K L V G D T p.420
. . . . . . g.107647
GTGTCCTACTCCAAGAAGAGGCTGCGCTACGACAGCTACTCGAGCTACTGTAACGCGGTG c.1320
V S Y S K K R L R Y D S Y S S Y C N A V p.440
. . . . . . g.107707
GCAGAGGCGGAGATCGAGGCGGAGGAGGGCGGCGTGGAGATGAAGCTGGCGTCGGAGCTG c.1380
A E A E I E A E E G G V E M K L A S E L p.460
. . . . . . g.107767
GCCGACCCTGACCAGCCGCGAGAGGACCCTGCAGAGGAGGAGAAGGAGGAGAAGGACGCA c.1440
A D P D Q P R E D P A E E E K E E K D A p.480
. . . . . . g.107827
CCCGAGGTTCACCTCCTGTTCCATTTCCTGCAGGTCCTCACCGCCTGTTTCGGGTCCTTT c.1500
P E V H L L F H F L Q V L T A C F G S F p.500
. . | 09 . . . . g.114626
GCTCACGGCGGCAATGACGTGAG | TAATGCCATCGGTCCCCTGGTAGCCTTGTGGCTGATT c.1560
A H G G N D V S | N A I G P L V A L W L I p.520
. . . . . . g.114686
TACAAACAAGGCGGGGTAACGCAAGAAGCAGCTACACCCGTCTGGCTGCTGTTTTATGGA c.1620
Y K Q G G V T Q E A A T P V W L L F Y G p.540
. . . . . . g.114746
GGAGTTGGAATCTGCACAGGCCTCTGGGTCTGGGGGAGAAGAGTGATCCAGACCATGGGG c.1680
G V G I C T G L W V W G R R V I Q T M G p.560
. . | 10 . . . g.116027
AAGGACCTCACTCCCATCACGCCGTCCAG | CGGCTTCACGATCGAGCTGGCCTCAGCCTTC c.1740
K D L T P I T P S S | G F T I E L A S A F p.580
. . . . . | 11 . g.126877
ACAGTGGTGATCGCCTCCAACATCGGGCTTCCAGTCAGCACCACGCACTGTAAG | GTGGGC c.1800
T V V I A S N I G L P V S T T H C K | V G p.600
. . . . . . g.126937
TCGGTGGTGGCCGTGGGCTGGATCCGCTCCCGCAAGGCTGTGGACTGGCGCCTCTTTCGG c.1860
S V V A V G W I R S R K A V D W R L F R p.620
. . . . . . g.126997
AACATCTTCGTGGCCTGGTTCGTGACCGTCCCTGTGGCTGGGCTGTTCAGCGCTGCTGTC c.1920
N I F V A W F V T V P V A G L F S A A V p.640
. . . g.127036
ATGGCTCTTCTCATGTATGGGATCCTTCCATATGTGTGA c.1959
M A L L M Y G I L P Y V X p.652
. . . . . . g.127096
tttgtcttcttccagctgcaaacagctaaagggatggtctggtgttggcgtgtgggagac c.*60
. . . . . . g.127156
atgtgtgctcgtgccgcacatacacatcctggccgtgcacggctctctcatgaccagctc c.*120
. . . . . . g.127216
tctgcctcccttccaggaggctccatcccacactgttcacccaggctgcggagactcacc c.*180
. . . . . . g.127276
ttcccgagctaacttaactactgtacataataatatgtattaaactggtatcgtggtgat c.*240
. . . . . . g.127336
ataatgtggtgcagttacttatatattaaatatctattgtatccatagaataggcagcat c.*300
. . . . . . g.127396
tatttcaaacatattcaagttgggagtggagatcattgcctagaagtcaatattcaataa c.*360
. . . . . . g.127456
atcttgtacataactatttcgatggcaaatgttaagccttctaaaaggaaagtgtagatt c.*420
. . . . . . g.127516
ggaaaatgattttttttccaaatgatgtttttgccttctaatatactgtaaggtaatgag c.*480
. . . . . . g.127576
cttcagaacaggcaacctgaccctgcagaggtcgcgtgctgtgggatgacagcgggacgg c.*540
. . . . . . g.127636
gagctcacaagtgctttcactgaagatttgttcatatactgtgtattgattgttgtgtaa c.*600
. . . . . . g.127696
tatatcatcattgcttttgtaaatacgtaaaactgtaattttttaatggtgtgcttccct c.*660
. . . . . . g.127756
tatacttttttgatcagagaattttggaaagtaccaaagaagcaggggaatcattggcca c.*720
. . . . . . g.127816
gtgttacgttttcacattgtctgtctcccaccctcactgatcacgcctgccccagagcag c.*780
. . . . . . g.127876
tgtgtggcggtgacaccgtcacccagcatgcgccacgccgtggctcccaccagcagtgcc c.*840
. . . . . . g.127936
accgccaccacaccccagatcccacccaccttgcagtggcctttccttgtcatcagagta c.*900
. . . . . . g.127996
gagaatgcacaggtgttggtgagggcgtgtggctgagcactacatgtcaagtccagagtc c.*960
. . . . . . g.128056
agtttctatcccaattctccctgcagcctgaagaacggatccttgtctccaatgtcagca c.*1020
. . . . . . g.128116
caaaggaggctttttctgtgctttgacattctagcacttcagggatgagagggagggaga c.*1080
. . . . . . g.128176
atcctggatgctggatggagtatttctctgaggcccacacaaagctggacacccccaggc c.*1140
. . . . . . g.128236
tctactccatcccattggagtctcttctttttttgatagcgggagggaggaagtacgact c.*1200
. . . . . . g.128296
aatgttggagcctgaaactatggaaatgctgctaaaatttttatattgacaaacattttc c.*1260
. . . . . . g.128356
ttggtacttcattgtcatttttcattaatcaaccatattaaatttataataaaaaatgcc c.*1320
. . g.128377
cctcagaagtttgcctctgaa c.*1341
(downstream sequence)
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