(used for variant description)
(last modified February 18, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_007255.2 in the B4GALT7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015977.1, covering B4GALT7 transcript NM_007255.2.
(upstream sequence)
. . . g.5033
gcggagcgggaggcggaggcgccgcgtaggccc c.-61
. . . . . . g.5093
gggaggccgggccggccgggctgcgagcgcctgccccatgcgccgccgcctctccgcacg c.-1
. . . . . | 02 . g.9071
ATGTTCCCCTCGCGGAGGAAAGCGGCGCAGCTGCCCTGGGAGGACGGCAG | GTCCGGGTTG c.60
M F P S R R K A A Q L P W E D G R | S G L p.20
. . . . . . g.9131
CTCTCCGGCGGCCTCCCTCGGAAGTGTTCCGTCTTCCACCTGTTCGTGGCCTGCCTCTCG c.120
L S G G L P R K C S V F H L F V A C L S p.40
. . . . . . g.9191
CTGGGCTTCTTCTCCCTACTCTGGCTGCAGCTCAGCTGCTCTGGGGACGTGGCCCGGGCA c.180
L G F F S L L W L Q L S C S G D V A R A p.60
. . . . . . g.9251
GTCAGGGGACAAGGGCAGGAGACCTCGGGCCCTCCCCGTGCCTGCCCCCCAGAGCCGCCC c.240
V R G Q G Q E T S G P P R A C P P E P P p.80
. . . . . . g.9311
CCTGAGCACTGGGAAGAAGACGCATCCTGGGGCCCCCACCGCCTGGCAGTGCTGGTGCCC c.300
P E H W E E D A S W G P H R L A V L V P p.100
. . . . . . g.9371
TTCCGCGAACGCTTCGAGGAGCTCCTGGTCTTCGTGCCCCACATGCGCCGCTTCCTGAGC c.360
F R E R F E E L L V F V P H M R R F L S p.120
. . . . . | 03 . g.12191
AGGAAGAAGATCCGGCACCACATCTACGTGCTCAACCAGGTGGACCACTTCAG | GTTCAAC c.420
R K K I R H H I Y V L N Q V D H F R | F N p.140
. . . . . . g.12251
CGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCC c.480
R A A L I N V G F L E S S N S T D Y I A p.160
. . . . . . g.12311
ATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCT c.540
M H D V D L L P L N E E L D Y G F P E A p.180
. . . . . . g.12371
GGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTC c.600
G P F H V A S P E L H P L Y H Y K T Y V p.200
. . . | 04 . . g.13442
GGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTG | TGCAATGGGATGTCCAACCGC c.660
G G I L L L S K Q H Y R L | C N G M S N R p.220
. . . . . . g.13502
TTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTC c.720
F W G W G R E D D E F Y R R I K G A G L p.240
| 05 . . . . . . g.13849
CAG | CTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGAC c.780
Q | L F R P S G I T T G Y K T F R H L H D p.260
. . . . | 06 . g.14434
CCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAG | GAGCAGTTCAAG c.840
P A W R K R D Q K R I A A Q K Q | E Q F K p.280
. . . . . . g.14494
GTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTG c.900
V D R E G G L N T V K Y H V A S R T A L p.300
. . . . . . g.14554
TCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCC c.960
S V G G A P C T V L N I M L D C D K T A p.320
. . g.14578
ACACCCTGGTGCACATTCAGCTGA c.984
T P W C T F S X p.327
. . . . . . g.14638
gctggatggacagtgaggaagcctgtacctacaggccatattgctcaggctcaggacaag c.*60
. . . . . . g.14698
gcctcaggtcgtgggcccagctctgacaggatgtggagtggccaggaccaagacagcaag c.*120
. . . . . . g.14758
ctacgcaattgcagccacccggccgccaaggcaggcttgggctgggccaggacacgtggg c.*180
. . . . . . g.14818
gtgcctgggacgctgcttgccatgcacagtgatcagagagaggctggggtgtgtcctgtc c.*240
. . . . . . g.14878
cgggaccccccctgccttcctgctcaccctactctgacctccttcacgtgcccaggcctg c.*300
. . . . . . g.14938
tgggtagtggggagggctgaacaggacaacctctcatcacccccacttttgttccttcct c.*360
. . . . . . g.14998
gctgggctgcctcgtgcagagacacagtgtaggggccatgcagctggcgtaggtggcagt c.*420
. . . . . . g.15058
tgggcctggtgagggttaggacttcagaaaccagagcacaagccccacagagggggaaca c.*480
. . . . . . g.15118
gccagcaccgctctagctggttgttgccatgccggaatgtgggcctagtgttgccagatc c.*540
. . . . . . g.15178
ttctgatttttcgaaagaaactagaatgctggattcttaagtgatatcttctgatttttt c.*600
. . . . . g.15230
aaatgatagcacctaaatgaaactttcaaaaagtatggcaggccagacaaaa c.*652
(downstream sequence)
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