(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014252.3 in the SLC25A15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012248.1, covering SLC25A15 transcript NM_014252.3.
(upstream sequence)
. . g.5022
tgggggcggtggcagggccggt c.-301
. . . . . . g.5082
gggcggtggcggctcccggtctcggctcgggcacggccctgggcaggccgcccgccagcc c.-241
. . . . . . g.5142
gcaggggcgctcctgagcttcgcggggccgcagtccgggatgcctgcgcgaagggagggg c.-181
. . . . . . g.5202
cgaagggccggccgttgccgacgtgggtgttaagtggccgccccagccggcgacccggag c.-121
. . . . . . | 02 g.8756
ccgagagcgggcggcggagcctgagctggacgcggccacgccggcgcggcg | ggatatgtg c.-61
. . . . . . g.8816
gtgcctgtcataagctccagagagctgccttccacaagaccagcagaagagtgggcaaac c.-1
. . . . . | 03 . g.14651
ATGAAATCCAATCCTGCTATCCAGGCTGCCATTGACCTCACAGCGGGGGCTGCAG | GAGGT c.60
M K S N P A I Q A A I D L T A G A A G | G p.20
. . . . . . g.14711
ACAGCATGTGTACTGACCGGGCAGCCCTTTGACACAATGAAAGTGAAGATGCAGACGTTC c.120
T A C V L T G Q P F D T M K V K M Q T F p.40
. . . . . . g.14771
CCTGACCTGTACCGGGGCCTCACCGACTGCTGCCTGAAGACTTACTCCCAGGTGGGCTTC c.180
P D L Y R G L T D C C L K T Y S Q V G F p.60
. . . . . . g.14831
CGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGCCAACATCGCTGAGAACTCAGTC c.240
R G F Y K G T S P A L I A N I A E N S V p.80
. . . . . . g.14891
CTCTTCATGTGCTACGGCTTCTGCCAGCAGGTGGTGCGGAAAGTGGCTGGATTGGACAAG c.300
L F M C Y G F C Q Q V V R K V A G L D K p.100
. | 04 . . . . . g.20753
CAGGCAAAGCTGAG | TGATCTGCAGAATGCAGCCGCCGGTTCCTTCGCCTCTGCCTTTGCT c.360
Q A K L S | D L Q N A A A G S F A S A F A p.120
. . . . . . g.20813
GCACTGGTGCTCTGCCCCACGGAGCTCGTGAAGTGCCGGCTGCAGACCATGTATGAGATG c.420
A L V L C P T E L V K C R L Q T M Y E M p.140
. . . | 05 . . . g.22911
GAGACATCAGGGAAGATAGCCAAGAGCCAGAA | TACAGTGTGGTCTGTCATCAAAAGTATT c.480
E T S G K I A K S Q N | T V W S V I K S I p.160
. . . . . . g.22971
CTTAGGAAAGATGGCCCCTTGGGGTTCTACCATGGACTCTCAAGCACTTTACTTCGAGAA c.540
L R K D G P L G F Y H G L S S T L L R E p.180
. . . . . . g.23031
GTACCAGGCTATTTCTTCTTCTTCGGTGGCTATGAACTGAGCCGGTCCTTTTTTGCATCA c.600
V P G Y F F F F G G Y E L S R S F F A S p.200
. . | 06 . . . . g.24065
GGGAGATCAAAAGATGAATTAG | GCCCTGTACCTTTGATGTTAAGTGGTGGAGTTGGTGGG c.660
G R S K D E L G | P V P L M L S G G V G G p.220
. . . . . . g.24125
ATTTGCCTCTGGCTTGCGGTATACCCAGTGGATTGTATCAAATCCAGAATTCAAGTTCTT c.720
I C L W L A V Y P V D C I K S R I Q V L p.240
. . . . . . g.24185
TCCATGTCTGGAAAACAGGCAGGATTTATCAGAACCTTTATAAATGTTGTGAAAAATGAA c.780
S M S G K Q A G F I R T F I N V V K N E p.260
| 07 . . . . . . g.25191
G | GAATAACGGCCTTATATTCTGGACTGAAACCTACTATGATTCGAGCATTCCCTGCCAAT c.840
G | I T A L Y S G L K P T M I R A F P A N p.280
. . . . . . g.25251
GGAGCACTCTTTTTGGCCTACGAATATAGCAGGAAGTTGATGATGAACCAGTTGGAAGCA c.900
G A L F L A Y E Y S R K L M M N Q L E A p.300
g.25257
TACTGA c.906
Y X p.301
. . . . . . g.25317
agtgtcttggtgggcctgagccaagcacaggtgtttgaggactacagttcatctcagggt c.*60
. . . . . . g.25377
ttcttggagtacaagaccagtgtgaagttattctgatttcttgggaattttgctttttgt c.*120
. . . . . . g.25437
cttcccttctaccctacatcttaaactttatggaagaacctctattttgcatcatatcat c.*180
. . . . . . g.25497
ttctgtccataattgtactgaaatagaaaagtgaccgctcttgctcttggtaaaatatag c.*240
. . . . . . g.25557
agtggtcagtagccttatgcacctaattcaaaaggtggaatatagttctgtcagggcttt c.*300
. . . . . . g.25617
tacgtaaacctccacttgtacatgcaatttggacagttatgtgttgagggaaatacagtt c.*360
. . . . . . g.25677
tggtaccttgtttatttcaaatatcagaaaaacccagaggtgatcatttctcatgaagat c.*420
. . . . . . g.25737
gcttataaatggttgcttaacccattctagatgtagggtctgcttaatgtgtgtactttt c.*480
. . . . . . g.25797
ctaagtggttgattattttttatttttttgatacagagtctcactctgtcacccagactg c.*540
. . . . . . g.25857
gagtgcagtggcacgatctcggctcactgcaacctccgcctcctgggttcaagcgattct c.*600
. . . . . . g.25917
ctcacctcagcctcctgagtagctgggattacaggtacgcgccaccatgtccagctaatt c.*660
. . . . . . g.25977
ttttttggtattttttgtagagacgaggtttcaccatgttgtccaggttggtctcgaact c.*720
. . . . . . g.26037
cctgacctcaagtgatccgcccacctcggcctcccaaagtgctgggattactggtgtgag c.*780
. . . . . . g.26097
ccaccatgcccagccagtggttgaattttttaaaaagtgttcatggggtgcttgaaaact c.*840
. . . . . . g.26157
aaaatatccttctagatttgtaagacagtatacctgcatactggtgtggcttccacactt c.*900
. . . . . . g.26217
gagtaaaagcttcagagtaggtatcctagatttccccaagatgctctactcttaaaatag c.*960
. . . . . . g.26277
tgccattcattttctaggtgggatcatattccacgctgactatattgctaggggtggccc c.*1020
. . . . . . g.26337
agagggtcaggcctttgggaaatagcatggcctttaccagcttcccttctctcccaaaga c.*1080
. . . . . . g.26397
acttcccttcttgggctttagattgaggaaggggctgagtggtaggcggtgctgctgtgc c.*1140
. . . . . . g.26457
tctgatgaagacccatgtggctagcaacagcgcttaccttttgtctctgggtcctggcct c.*1200
. . . . . . g.26517
ggggccatcaatccactttgggccactcactgtctgctctgcctccaccaatcagaaacc c.*1260
. . . . . . g.26577
cttccaaggaacagtgagagccaaagccaagagaagccttcttccctgtttggtgattgt c.*1320
. . . . . . g.26637
gtgacagtgggtgaacctctctcagagagaactagaaagaactcagtgcttgtactccac c.*1380
. . . . . . g.26697
agtgagtaatgtcaggtctgacccatcctgaagcctgtcttgccatgcttttacagtgtt c.*1440
. . . . . . g.26757
ggaggcttctacatttggtacttgcagtcagtaagtcttaatgatgactgtatatgtgat c.*1500
. . . . . . g.26817
atgagtttataaagcaatggaacataagaaaagcaattgtaggccaggcgcagtggctca c.*1560
. . . . . . g.26877
cgcctataatcccagcactttgggaggctgaggcgggcgggtcacaaggtcaggagttcg c.*1620
. . . . . . g.26937
agaacagcctgaccaacatggtgaaaccccatctctactaaaaatacaaaaattagctgg c.*1680
. . . . . . g.26997
gcgtggtggcacgtgcctgtaatcccagctactcaggaggctgaggcaggagaatcgctt c.*1740
. . . . . . g.27057
gaacccgggaggcagaggttgcagtgaactgagattgtgccactgcactccagactgggt c.*1800
. . . . . . g.27117
gacacagcgagacttcatctcaaaaaaaaaaagaaaagaaaagcaattgtacttcactat c.*1860
. . . . . . g.27177
gccatatgtatgtattcactgaccaaaaattcactgaccaaccaaccaaactccacactt c.*1920
. . . . . . g.27237
catctgatcccccatagacttggggatggacagctgttctttggccatatggtataagag c.*1980
. . . . . . g.27297
gatcattcttgtcactacttaagttagcctcatcattttgtgctgctccaacaccagcag c.*2040
. . . . . . g.27357
ggtatctcccaataaagtgttcctaagcagcctgtatactgagtgcaagcaggctatcaa c.*2100
. . . . . . g.27417
ttttaataatagtccataccatgtatgtgtttctgtcagcagaatgtacatgttgtacaa c.*2160
. . . . . . g.27477
aacctccaggttccttaagctttttgctgtccatgaatcctctgtggcaactgtaatcac c.*2220
. . . . . . g.27537
agagccagaagccagagggccagggatatgagaggctgacaaacatcaggggacatctgg c.*2280
. . . . . . g.27597
ggaggagatccctgtcatgtctcttgtgccatggagctattatggctggtcttccatttg c.*2340
. . . . . . g.27657
ctttttctttaagtgaaaaccatttttctactttgcttttctctccatacttaaatggtc c.*2400
. . . . . . g.27717
agtagctactgagtggtgctttatctgaataggcctggatcgaagtaaaatagaaatggg c.*2460
. . . . . . g.27777
actggctttccacaggaagtaaactgcttcagagcccacagtcccctgctcagtgtccgg c.*2520
. . . . . . g.27837
aaagaagtcagtcatccctgttggcagtaaatcttcccacaggccgtccattagagattt c.*2580
. . . . . . g.27897
aactagatatgttcaatagaaagagtctgaggcaagtggaaatgaggaacggaaacttag c.*2640
. . . . . . g.27957
gttgggagaatattttttttttattcattctgtttgcttaattcagagtacagtttgtgc c.*2700
. . . . . . g.28017
tatttcatatctgtactccaggcagaaatataacttgaaaatactgtgtctaaagaaatt c.*2760
. . . g.28050
tcagtgttctatcattaaattatttacttaata c.*2793
(downstream sequence)
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