(used for variant description)
(last modified June 21, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005660.1 in the SLC35A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering SLC35A2 transcript NM_005660.1.
(upstream sequence)
g.5322
caac c.-1
. . . . . . g.5382
ATGGCAGCGGTTGGGGCTGGTGGTTCCACCGCGGCGCCCGGGCCAGGGGCGGTTTCCGCG c.60
M A A V G A G G S T A A P G P G A V S A p.20
. . . | 02 . . . g.6991
GGTGCATTGGAGCCGGGGACCGCCAGTGCGG | CTCACAGGCGCCTGAAGTACATATCCCTA c.120
G A L E P G T A S A A | H R R L K Y I S L p.40
. . . . . . g.7051
GCTGTGCTGGTGGTCCAGAATGCCTCCCTCATCCTCAGCATCCGCTACGCCCGCACGTTG c.180
A V L V V Q N A S L I L S I R Y A R T L p.60
. . . . . . g.7111
CCAGGGGACCGCTTCTTTGCCACCACTGCTGTGGTCATGGCGGAAGTGCTCAAAGGTCTC c.240
P G D R F F A T T A V V M A E V L K G L p.80
. . . | 03 . . . g.10441
ACCTGCCTGCTGCTGCTCTTCGCACAGAAGAGGG | GTAACGTGAAGCACCTGGTTCTCTTC c.300
T C L L L L F A Q K R G | N V K H L V L F p.100
. . . . . . g.10501
CTCCATGAGGCTGTCCTGGTGCAGTATGTGGACACGCTCAAGCTCGCAGTGCCCTCTCTC c.360
L H E A V L V Q Y V D T L K L A V P S L p.120
. . . . . . g.10561
ATCTACACCTTGCAGAATAACCTCCAGTATGTTGCCATCTCTAACCTACCAGCTGCCACT c.420
I Y T L Q N N L Q Y V A I S N L P A A T p.140
| 04 . . . . . . g.11530
TTCCAG | GTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTG c.480
F Q | V T Y Q L K I L T T A L F S V L M L p.160
. . . . . . g.11590
AATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCC c.540
N R S L S R L Q W A S L L L L F T G V A p.180
. . . . . . g.11650
ATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGG c.600
I V Q A Q Q A G G G G P R P L D Q N P G p.200
. . . . . . g.11710
GCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTT c.660
A G L A A V V A S C L S S G F A G V Y F p.220
. . . . . . g.11770
GAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTC c.720
E K I L K G S S G S V W L R N L Q L G L p.240
. . . . . . g.11830
TTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGCCACC c.780
F G T A L G L V G L W W A E G T A V A T p.260
. . . . . . g.11890
CGTGGTTTCTTTTTTGGGTACACACCTGCTGTCTGGGGCGTGGTGCTCAACCAGGCCTTC c.840
R G F F F G Y T P A V W G V V L N Q A F p.280
. . . . . . g.11950
GGCGGGCTACTGGTGGCTGTGGTTGTCAAGTACGCTGACAATATCCTCAAGGGCTTTGCC c.900
G G L L V A V V V K Y A D N I L K G F A p.300
. . . . . . g.12010
ACCTCCCTGTCCATTGTGCTGTCCACTGTTGCCTCCATTCGCCTCTTTGGCTTCCACGTG c.960
T S L S I V L S T V A S I R L F G F H V p.320
. . . . . . g.12070
GACCCATTATTTGCCCTTGGCGCTGGACTCGTCATTGGTGCTGTCTACCTCTACAGCCTT c.1020
D P L F A L G A G L V I G A V Y L Y S L p.340
. . . . . . g.12130
CCCCGAGGTGCAGCCAAAGCCATAGCCTCTGCCTCTGCCTCCGCCTCCGGGCCCTGCGTT c.1080
P R G A A K A I A S A S A S A S G P C V p.360
. . . . . . g.12190
CACCAGCAGCCTCCCGGGCAGCCACCACCACCGCAGCTGTCTTCCCACCGTGGAGACCTC c.1140
H Q Q P P G Q P P P P Q L S S H R G D L p.380
. . | 05 . . . g.13530
ATCACGGAGCCCTTTCTGCCAAA | GTTGCTCACCAAGGTGAAGGGTTCCTAG c.1191
I T E P F L P K | L L T K V K G S X p.396
. . . . . . g.13590
ccgctgggattgaagacattggcctggcctcgttctctcttcttgcccttggcccagctg c.*60
. . . . . . g.13650
ggaccaaactctgatcagtattaggggtagagtgaggtagacactggactccctgtcccc c.*120
. . . . . . g.13710
accacccctgccccacccagggccaacatgactaagctctctcatgacccacctcagctc c.*180
. . . . . . g.13770
agccccccagcccctgccagctccacactatctcttagctgagtttttgcaaataaaatg c.*240
. g.13786
tgttgtgtatcttgcc c.*256
(downstream sequence)
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