(used for variant description)
(last modified February 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001463.3 in the FRZB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017197.1, covering FRZB transcript NM_001463.3.
(upstream sequence)
. . . g.5038
gttgggaaagagcagcctgggcggcaggggcggtggct c.-181
. . . . . . g.5098
ggagctcggtaaagctcgtgggaccccattgggggaatttgatccaaggaagcggtgatt c.-121
. . . . . . g.5158
gccgggggaggagaagctcccagatccttgtgtccacttgcagcgggggaggcggagacg c.-61
. . . . . . g.5218
gcggagcgggccttttggcgtccactgcgcggctgcaccctgccccatcctgccgggatc c.-1
. . . . . . g.5278
ATGGTCTGCGGCAGCCCGGGAGGGATGCTGCTGCTGCGGGCCGGGCTGCTTGCCCTGGCT c.60
M V C G S P G G M L L L R A G L L A L A p.20
. . . . . . g.5338
GCTCTCTGCCTGCTCCGGGTGCCCGGGGCTCGGGCTGCAGCCTGTGAGCCCGTCCGCATC c.120
A L C L L R V P G A R A A A C E P V R I p.40
. . . . . . g.5398
CCCCTGTGCAAGTCCCTGCCCTGGAACATGACTAAGATGCCCAACCACCTGCACCACAGC c.180
P L C K S L P W N M T K M P N H L H H S p.60
. . . . . . g.5458
ACTCAGGCCAACGCCATCCTGGCCATCGAGCAGTTCGAAGGTCTGCTGGGCACCCACTGC c.240
T Q A N A I L A I E Q F E G L L G T H C p.80
. . . . . . g.5518
AGCCCCGATCTGCTCTTCTTCCTCTGTGCCATGTACGCGCCCATCTGCACCATTGACTTC c.300
S P D L L F F L C A M Y A P I C T I D F p.100
. . . . . . g.5578
CAGCACGAGCCCATCAAGCCCTGTAAGTCTGTGTGCGAGCGGGCCCGGCAGGGCTGTGAG c.360
Q H E P I K P C K S V C E R A R Q G C E p.120
. . . . . . g.5638
CCCATACTCATCAAGTACCGCCACTCGTGGCCGGAGAACCTGGCCTGCGAGGAGCTGCCA c.420
P I L I K Y R H S W P E N L A C E E L P p.140
. . . . . | 02 g.12939
GTGTACGACAGGGGCGTGTGCATCTCTCCCGAGGCCATCGTTACTGCGGACGGAGCTG | AT c.480
V Y D R G V C I S P E A I V T A D G A D | p.160
. . . . | 03 . . g.29241
TTTCCTATGGATTCTAGTAACGGAAACTGTAGAGGGGCAAGCAGTG | AACGCTGTAAATGT c.540
F P M D S S N G N C R G A S S E | R C K C p.180
. . . . . | 04 . g.33165
AAGCCTATTAGAGCTACACAGAAGACCTATTTCCGGAACAATTACAACTATG | TCATTCGG c.600
K P I R A T Q K T Y F R N N Y N Y V | I R p.200
. . . . . . g.33225
GCTAAAGTTAAAGAGATAAAGACTAAGTGCCATGATGTGACTGCAGTAGTGGAGGTGAAG c.660
A K V K E I K T K C H D V T A V V E V K p.220
. . . . . . g.33285
GAGATTCTAAAGTCCTCTCTGGTAAACATTCCACGGGACACTGTCAACCTCTATACCAGC c.720
E I L K S S L V N I P R D T V N L Y T S p.240
. . . . . . g.33345
TCTGGCTGCCTCTGCCCTCCACTTAATGTTAATGAGGAATATATCATCATGGGCTATGAA c.780
S G C L C P P L N V N E E Y I I M G Y E p.260
. | 05. . . . . g.33802
GATGAGGAACGTTCCAG | ATTACTCTTGGTGGAAGGCTCTATAGCTGAGAAGTGGAAGGAT c.840
D E E R S R | L L L V E G S I A E K W K D p.280
. . | 06 . . . . g.36845
CGACTCGGTAAAAAAGTTAAG | CGCTGGGATATGAAGCTTCGTCATCTTGGACTCAGTAAA c.900
R L G K K V K | R W D M K L R H L G L S K p.300
. . . . . . g.36905
AGTGATTCTAGCAATAGTGATTCCACTCAGAGTCAGAAGTCTGGCAGGAACTCGAACCCC c.960
S D S S N S D S T Q S Q K S G R N S N P p.320
. g.36923
CGGCAAGCACGCAACTAA c.978
R Q A R N X p.325
. . . . . . g.36983
atcccgaaatacaaaaagtaacacagtggacttcctattaagacttacttgcattgctgg c.*60
. . . . . . g.37043
actagcaaaggaaaattgcactattgcacatcatattctattgtttactataaaaatcat c.*120
. . . . . . g.37103
gtgataactgattattacttctgtttctcttttggtttctgcttctctcttctctcaacc c.*180
. . . . . . g.37163
cctttgtaatggtttgggggcagactcttaagtatattgtgagttttctatttcactaat c.*240
. . . . . . g.37223
catgagaaaaactgttcttttgcaataataataaattaaacatgctgttaccagagcctc c.*300
. . . . . . g.37283
tttgctggagtctccagatgttaatttactttctgcaccccaattgggaatgcaatattg c.*360
. . . . . . g.37343
gatgaaaagagaggtttctggtattcacagaaagctagatatgccttaaaacatactctg c.*420
. . . . . . g.37403
ccgatctaattacagccttatttttgtatgccttttgggcattctcctcatgcttagaaa c.*480
. . . . . . g.37463
gttccaaatgtttataaaggtaaaatggcagtttgaagtcaaatgtcacataggcaaagc c.*540
. . . . . . g.37523
aatcaagcaccaggaagtgtttatgaggaaacaacacccaagatgaattatttttgagac c.*600
. . . . . . g.37583
tgtcaggaagtaaaataaataggagcttaagaaagaacattttgcctgattgagaagcac c.*660
. . . . . . g.37643
aactgaaaccagtagccgctggggtgttaatggtagcattcttcttttggcaatacattt c.*720
. . . . . . g.37703
gatttgttcatgaatatattaatcagcattagagaaatgaattataactagacatctgct c.*780
. . . . . . g.37763
gttatcaccatagttttgtttaatttgcttccttttaaataaacccattggtgaaagtct c.*840
. . . . . . g.37823
ttttttttctcttcttttaaaataaatcagaattgccgtattgaccaggaaaagattatg c.*900
. . . . . . g.37883
tatgcacgtgcaccagggttagtttttaaaagtacatggctccataaaaatgctgtagat c.*960
. . . . . . g.37943
tacagagtgataaaatatgcaggtttttttgtttttgttttttctgttgtgtgtgtgtct c.*1020
. . . . . . g.38003
gtatttgtgtacatgtgtgtccttgcactcacacccaaggtggattaaaatacaggcctg c.*1080
. . . . . . g.38063
caaactggcctgcactttatcatttggatttgtgctgcttaatgctcagcgaaaaatgtc c.*1140
. . . . . . g.38123
tagtaaaatgaattatggttgtcaggagagaggttatttcgacttttgaaccaattgcac c.*1200
. . . . . . g.38183
atttctcattacccaagctgtggtgagatcccaggggctgtggtgaacaaatgatgcttt c.*1260
. . . . . . g.38243
tatagatggtccctagcttacaatgattcaatttacaatgcttcaatttaacaatttgtt c.*1320
. . . . . . g.38303
gacttacaatgggtttatcaggatgtaacccaatgcatttcaacttacgatattttcagt c.*1380
. . . . . . g.38363
ttcgaatgggtttatccagatgtaaccccatcgtaaatggcggagcatctgtacttcctt c.*1440
. . . . . . g.38423
cctctggcagagttccttagagcctgtgccaattacttgaaagtttcattctctgccatt c.*1500
. . . . . . g.38483
tacatgtgtgctattagtagaaccaaatttctaagctgtggcgtgctgaaaataaaatgc c.*1560
. g.38497
ttatgaagcaaaaa c.*1574
(downstream sequence)
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