(used for variant description)
(last modified December 2, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001035254.2 in the FAM102A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering FAM102A transcript NM_001035254.2.
(upstream sequence)
. . . g.5036
agtctcaccggtccgcccggccgcgcggcgtgagct c.-361
. . . . . . g.5096
ccccggacatcgcgtctcgggatgctgcaagccagcgcggccgctcgcgcgcagccccgc c.-301
. . . . . . g.5156
acctccgcccctgcctctgcctcctgggccatgccctgctgtttacatgccggtgaggtc c.-241
. . . . . . g.5216
cccggccgctccgaacccctccgagccccggctccccgagggtgaagcccgccggcccgc c.-181
. . . . . . g.5276
gaactggactggtggatctctcagacctggggccccggactccgatctccgccgtctccg c.-121
. . . . . . g.5336
ccaccatcagggcgggatccggctctggtgttttgaggagggggtgtggtgtagggaaag c.-61
. . . . . . g.5396
gaatcccgtccctctccaccttttttcgccttcggggcttcagactcagggaactcgctc c.-1
. . . . . . g.5456
ATGGCTTTCTTGATGAAGAAGAAGAAATTCAAATTCCAAACTACTTTCACCCTGGAGGAG c.60
M A F L M K K K K F K F Q T T F T L E E p.20
. . . . . . g.5516
CTGACTGCGGTTCCCTTCGTGAACGGGGTCCTCTTCTGCAAGGTCCGGCTGCTGGATGGA c.120
L T A V P F V N G V L F C K V R L L D G p.40
. . | 02 . . . . g.31642
GGGGATTTTGTCAGCTTGTCGTCAAG | GGAGGAGGTACAGGAGAACTGTGTGCGGTGGCGA c.180
G D F V S L S S R | E E V Q E N C V R W R p.60
. . . . . . g.31702
AAGAGGTTCACCTTCGTGTGTAAGATGAGTGCTAACCCGGCCACCGGCCTGCTGGACCCC c.240
K R F T F V C K M S A N P A T G L L D P p.80
. . | 03. . . | 04. g.34997
TGTGTCTTCCGTGTGTCTGTGCGCAAG | GAGCTGAAAGGCGGGAAGGCTTATTCCAAG | CTG c.300
C V F R V S V R K | E L K G G K A Y S K | L p.100
. . . . . . g.35057
GGCTTCGCTGACTTGAACCTGGCCGAGTTTGCGGGCTCGGGCTCCACGGTGCGCTGCTGC c.360
G F A D L N L A E F A G S G S T V R C C p.120
. . . . . | 05 . g.37125
CTGCTCGAGGGATATGACACGAAGAACACTCGCCAGGACAACTCCATCCTTAAG | GTCACC c.420
L L E G Y D T K N T R Q D N S I L K | V T p.140
. . . . | 06 . . g.37327
ATTGGTATGTTCCTGCTCTCTGGAGATCCCTGCTTCAAGAC | GCCACCATCGACTGCCAAG c.480
I G M F L L S G D P C F K T | P P S T A K p.160
. . . . . . g.37387
TCCATCTCCATCCCAGGCCAGGATTCCTCCCTGCAGCTGACGTGTAAGGGTGGTGGGACC c.540
S I S I P G Q D S S L Q L T C K G G G T p.180
. . . . . . g.37447
AGCAGTGGGGGCAGCAGCACCAACTCCCTGACTGGGTCCCGGCCCCCCAAGGCTCGGCCC c.600
S S G G S S T N S L T G S R P P K A R P p.200
. | 07 . . . . . g.39824
ACTATTCTCAGCTCAG | GGCTGCCAGAGGAACCCGACCAGAACCTGTCCAGCCCTGAGGAG c.660
T I L S S G | L P E E P D Q N L S S P E E p.220
. . . . . . g.39884
GTGTTCCACTCTGGCCACTCCCGCAACTCCAGCTATGCCAGCCAGCAGTCCAAGATCTCC c.720
V F H S G H S R N S S Y A S Q Q S K I S p.240
| 08 . . . . . . g.40030
G | GCTACAGCACAGAGCACTCGCGCTCCTCCAGCCTCTCAGACCTGACGCACCGCCGCAAC c.780
G | Y S T E H S R S S S L S D L T H R R N p.260
. . . . . . g.40090
ACGTCCACCAGCAGCAGCGCCTCTGGGGGCCTTGGCATGACCGTGGAGGGCCCTGAGGGC c.840
T S T S S S A S G G L G M T V E G P E G p.280
. . . . . . g.40150
AGTGAGCGGGAGCACCGGCCCCCGGAGAAGCCGCCGCGGCCACCCCGGCCCCTGCATCTG c.900
S E R E H R P P E K P P R P P R P L H L p.300
. | 09. . . . . g.40678
TCCGATCGCTCTTTCAG | GCGGAAGAAGGACTCGGTGGAGAGCCACCCGACCTGGGTGGAC c.960
S D R S F R | R K K D S V E S H P T W V D p.320
. . . . . . g.40738
GACACGCGGATCGATGCGGATGCCATCGTGGAGAAGATCGTGCAGAGCCAGGATTTCACA c.1020
D T R I D A D A I V E K I V Q S Q D F T p.340
. | 10 . . . . g.40890
GATGGCAGCAACACCGAGG | ACAGCAACCTCCGGCTGTTCGTGAGCCGCGATGGCTCTGCC c.1080
D G S N T E D | S N L R L F V S R D G S A p.360
. . | 11 . . . g.42327
ACGCTGAGCGGCATCCAGCTTGCCACCAG | GGTCTCTTCTGGGGTCTACGAGCCAGTTGTG c.1140
T L S G I Q L A T R | V S S G V Y E P V V p.380
. g.42342
ATTGAAAGCCATTGA c.1155
I E S H X p.384
. . . . . . g.42402
ggagcaggtgtccgggctggagaagagtcctgctttctctggagtccagacctgtatcat c.*60
. . . . . . g.42462
tccatgaggaactttccccttcagatcacctctgcgccacatctcatccatgcctcctcc c.*120
. . . . . . g.42522
atgcactccagtccacactccccgtagcatcattccattgcccctcccatccatgctggg c.*180
. . . . . . g.42582
accctcctggcccaccaaggcccaggcaccactgtgaatattctcctctgaaccactaga c.*240
. . . . . . g.42642
gggcaggccaggcaggccaggcgggcccgtgcagcttgtgggcaagaaggagctggcaag c.*300
. . . . . . g.42702
gaccggcgctgctggagactgacccagccctctggctgaggacatgcagcggctcctaaa c.*360
. . . . . . g.42762
tgtagagatgcctgtggctgagggggcctctctacctgtgtccccactcactccaggagc c.*420
. . . . . . g.42822
actggctttggtcacgtcttagcagcagggccttgctccgttgttcccttgccctggtgg c.*480
. . . . . . g.42882
tgggggggccagaccacctccggaatcctgccacctgtgactgtctgactgcttagtgct c.*540
. . . . . . g.42942
tcagctgtcccttccttgtgtcctgggggacctgctggcggcctcttcctgggagccatg c.*600
. . . . . . g.43002
acctcagaccccacccacactccagatcgagacccctgcctccccccggcaaatgtcctc c.*660
. . . . . . g.43062
ccgctgccttgcagcctgcactttgcacatgctcacccccagcacagtcccactggcccc c.*720
. . . . . . g.43122
tcacctccccttccctgagctccttcccaaggactcctggtcactgcctgctgtgcagtc c.*780
. . . . . . g.43182
agaggcccagggtccagcagcccggcgggaacgggtgctgcctcttcctccagttagctc c.*840
. . . . . . g.43242
cagctcaggtctgagacccgtgctgagaaaggtctgagcaccgaccgtgccctctgccca c.*900
. . . . . . g.43302
gggctgggtcctgagcagctggttttcctgcaggaaggttggagcaagcaaagtccttct c.*960
. . . . . . g.43362
ctgccctcagggtcagctgcccagactggggcggatgccagagaggcaggtgggctgtgg c.*1020
. . . . . . g.43422
ctggactggtccggagctggcttccttaccagaaaagcctcagccttcctctggaagcat c.*1080
. . . . . . g.43482
cccccgttctgggcaagggggaagggctcctttaaggggtgtgctttcccagtggggagc c.*1140
. . . . . . g.43542
agtctggccctgccccctactaaagcctctgctctcagcactttcccccaagtccttgta c.*1200
. . . . . . g.43602
acttgcttgaaggtgggttctggctgccagccagtccctggacaaactctcctgcccctt c.*1260
. . . . . . g.43662
ttaaatttcactcattttgtataaacccagcaggctggtgtttacttagccctgtagctt c.*1320
. . . . . . g.43722
ttttcattttttctttccgtctttcttcttgagttcacggttcaatattgcctcctcgcc c.*1380
. . . . . . g.43782
ctggtgaggggaggtgctgcttttctgccccacctgccggctggttccagcagcgctggg c.*1440
. . . . . . g.43842
gcccagctggggggccgggatgggggcttctctctctgggaggggtgcaggtgccctccc c.*1500
. . . . . . g.43902
caggctgggagggttccttccctagctccccatctgcccccgctggtgagagttgggctt c.*1560
. . . . . . g.43962
cttggtcttggaactccctggcattgggaacagagcatttccagcatttgttgttgtttt c.*1620
. . . . . . g.44022
actcacctaacccttagaaaatgaatgttagaaggtgcctgccgaggcgggacagagtgt c.*1680
. . . . . . g.44082
tcgctcgcgctggagaaggctctgctcagccctgagagtcccttcctgccccaccgatac c.*1740
. . . . . . g.44142
tggcactttaaaaaggaagctgaccgcacagtgtccagacgaattggcccccagaagatg c.*1800
. . . . . . g.44202
gggagttctgtcctgcccttctgtgtctgcgtgacctcacccagcctaggagggaggtgc c.*1860
. . . . . . g.44262
attcagggtagatttgcctctcattcaaagttctggggctttgggtggaaaacagccagc c.*1920
. . . . . . g.44322
tttggcgctgttggggagactcctccagaccaggaaccccagaaggagacagagcctgcc c.*1980
. . . . . . g.44382
acatcctcccacgccaggccctgggccagggtgattggactgagaatttggccacaacca c.*2040
. . . . . . g.44442
aattgatgctggctggaaccagaggccagaaagcctggccttgtccccatgtgggagccc c.*2100
. . . . . . g.44502
tgtcctcagccctcttgtccccttgagctcagtgaattcccaccaggtgcccacagctcc c.*2160
. . . . . . g.44562
tggacttcaaattctatatattgagagagttggagagtatatcagagatatttttggaaa c.*2220
. . . . . . g.44622
ggagttggtctatgcaatgtcagtttggaatcttcttgaaagtttaatgtttttattagg c.*2280
. . . . . . g.44682
agatttaaagaaaataaaggtctacaatatctttaggttttttttttttcctgtttaccg c.*2340
. . . . . . g.44742
cacaaactgaccacatggcatgtctatcaggatggagggtgtccatgttctcctctgtct c.*2400
. . . . . . g.44802
ttagggaggtgataaggagatgggcggaggggtgtttttttctttgactcccctcctttc c.*2460
. . . . . . g.44862
taacagaatgttgccaccactgcttgagtgggctgtgtttgttcctctgtcccagcttct c.*2520
. . . . . . g.44922
gttgtagaaaataacattgttaggggaactcaggctagtgtcagcgtcttggtttgggga c.*2580
. . . g.44952
gaaaaaattaaatgtttcggtttttgtttc c.*2610
(downstream sequence)
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