(used for variant description)
(last modified February 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_178176.2 in the MOGAT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering MOGAT3 transcript NM_178176.2.
(upstream sequence)
. . . . g.5047
cactcacacacctacggacacacgctactctgggaggtgatttgcga c.-121
. . . . . . g.5107
cttagccaggcccccaaagctgggctcctgtagggagaaagtctgcccaggtccacatcc c.-61
. . . . . . g.5167
aagccttcatcgtttgtcctccgggttctgggatcctgctggaagaggggagcttctgca c.-1
. . . . . . g.5227
ATGGGAGTTGCCACAACCCTGCAGCCCCCAACCACTTCCAAAACCTTGCAGAAGCAGCAT c.60
M G V A T T L Q P P T T S K T L Q K Q H p.20
. . . . | 02 . g.5517
CTAGAAGCAGTGGGCGCCTACCAATATGTGCTCACTTTCCTCTTCATGG | GCCCTTTCTTC c.120
L E A V G A Y Q Y V L T F L F M G | P F F p.40
. . . . . . g.5577
TCCCTTCTTGTCTTTGTCCTCCTCTTCACGTCACTCTGGCCCTTCTCTGTTTTTTACTTG c.180
S L L V F V L L F T S L W P F S V F Y L p.60
. . . | 03. . . g.5740
GTGTGGCTCTATGTGGACTGGGACACACCCAACCAAG | GTGGAAGGCGTTCGGAGTGGATA c.240
V W L Y V D W D T P N Q G | G R R S E W I p.80
. . . . | 04 . g.7203
AGGAACCGGGCAATTTGGAGACAACTAAGGGATTATTATCCTGTCAAG | CTGGTGAAAACA c.300
R N R A I W R Q L R D Y Y P V K | L V K T p.100
. . . . . . g.7263
GCAGAGCTGCCCCCGGATCGGAACTACGTGCTGGGCGCCCACCCTCATGGGATCATGTGT c.360
A E L P P D R N Y V L G A H P H G I M C p.120
. . . . . . g.7323
ACAGGCTTCCTCTGTAATTTCTCCACCGAGAGCAATGGCTTCTCCCAGCTCTTCCCGGGG c.420
T G F L C N F S T E S N G F S Q L F P G p.140
. . . . . . g.7383
CTCCGGCCCTGGTTAGCCGTGCTGGCTGGCCTCTTCTACCTCCCGGTCTATCGCGACTAC c.480
L R P W L A V L A G L F Y L P V Y R D Y p.160
. | 05 . . . . . g.7703
ATCATGTCCTTTG | GACTCTGTCCGGTGAGCCGCCAGAGCCTGGACTTCATCCTGTCCCAG c.540
I M S F G | L C P V S R Q S L D F I L S Q p.180
. . . . . . g.7763
CCCCAGCTCGGGCAGGCCGTGGTCATCATGGTGGGGGGTGCGCACGAGGCCCTGTATTCA c.600
P Q L G Q A V V I M V G G A H E A L Y S p.200
. . . . . . g.7823
GTCCCCGGGGAGCACTGCCTTACGCTCCAGAAGCGCAAAGGCTTCGTGCGCCTGGCGCTG c.660
V P G E H C L T L Q K R K G F V R L A L p.220
| 06 . . . . . g.9684
AGGCACGG | GGCGTCCCTGGTGCCCGTGTACTCCTTTGGGGAGAATGACATCTTTAGACTT c.720
R H G | A S L V P V Y S F G E N D I F R L p.240
. . . . . . g.9744
AAGGCTTTTGCCACAGGCTCCTGGCAGCATTGGTGCCAGCTCACCTTCAAGAAGCTCATG c.780
K A F A T G S W Q H W C Q L T F K K L M p.260
. . . . . . g.9804
GGCTTCTCTCCTTGCATCTTCTGGGGTCGCGGTCTCTTCTCAGCCACCTCCTGGGGCCTG c.840
G F S P C I F W G R G L F S A T S W G L p.280
. . . | 07 . . . g.9950
CTGCCCTTTGCTGTGCCCATCACCACTGTGG | TGGGCCGCCCCATCCCCGTCCCCCAGCGC c.900
L P F A V P I T T V V | G R P I P V P Q R p.300
. . . . . . g.10010
CTCCACCCCACCGAGGAGGAAGTCAATCACTATCACGCCCTCTACATGACGGCCCTGGAG c.960
L H P T E E E V N H Y H A L Y M T A L E p.320
. . . . . . g.10070
CAGCTCTTCGAGGAGCACAAGGAAAGCTGTGGGGTCCCCGCTTCCACCTGCCTCACCTTC c.1020
Q L F E E H K E S C G V P A S T C L T F p.340
g.10076
ATCTAG c.1026
I X p.341
. . . . . . g.10136
gcctggccgcggcctttcgctgagcccctgagcccaaggcactgagacctccacccactg c.*60
. . . . . . g.10196
tggactccatgcctccaataaaaggtagttctgggcccagcgcagtgcctcatgcctgta c.*120
. . . . . . g.10256
atcccagcactttgggaggccaaggtgggaggatcgtttgagcccaggagttgaagacca c.*180
. . . g.10293
gcctgggcaacacagtgagacttcatttctacaaaaa c.*217
(downstream sequence)
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