(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_153816.3 in the SNX14 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering SNX14 transcript NM_153816.3.
(upstream sequence)
. g.5013
gcggccgcgcacg c.-181
. . . . . . g.5073
cgcggcggggggcgtggggctgggcccagccggacgcgacctcagcctgcggcggctaac c.-121
. . . . . . g.5133
tgccggtaggcgtctgtgtgcgccgccaagtcggtggggcggggacgcgaggtgtggatg c.-61
. . . . . . g.5193
gggggtcgccttgacctctgcctcagccagtagcgcagtctcggcctcgccgttacggag c.-1
. . . . . . g.5253
ATGGTGCCCTGGGTGCGGACGATGGGGCAGAAGCTGAAGCAGCGGCTGCGACTGGACGTG c.60
M V P W V R T M G Q K L K Q R L R L D V p.20
. . . . . . g.5313
GGACGCGAGATCTGCCGCCAGTACCCGCTGTTCTGCTTCCTGCTGCTCTGTCTCAGCGCC c.120
G R E I C R Q Y P L F C F L L L C L S A p.40
. . | 02 . . . . g.24573
GCCTCCCTGCTTCTTAACAG | GTATATTCATATTTTAATGATCTTCTGGTCATTTGTTGCT c.180
A S L L L N R | Y I H I L M I F W S F V A p.60
. . . . . . g.24633
GGAGTTGTCACATTCTACTGCTCACTAGGACCTGATTCTCTCTTACCAAATATATTCTTC c.240
G V V T F Y C S L G P D S L L P N I F F p.80
. . | 03 . . . . g.26576
ACAATAAAATACAAACCCAAG | CAGTTAGGACTTCAGGAATTATTTCCTCAAGGTCATAGC c.300
T I K Y K P K | Q L G L Q E L F P Q G H S p.100
. . . | 04 . . g.26718
TGTGCTGTTTGTGGTAAAGTGAAATGTAAACGACATAG | GCCTTCTTTGCTACTTGAAAAC c.360
C A V C G K V K C K R H R | P S L L L E N p.120
. . . . . | 05. g.31337
TACCAGCCATGGCTAGACCTGAAAATTTCTTCCAAGGTTGATGCATCTCTCTCAGAG | GTT c.420
Y Q P W L D L K I S S K V D A S L S E | V p.140
. . . . | 06 . . g.33511
CTTGAATTAGTGTTGGAAAACTTTGTTTATCCGTGGTACAG | GGATGTGACAGATGATGAA c.480
L E L V L E N F V Y P W Y R | D V T D D E p.160
. . . . . . g.33571
TCCTTTGTTGATGAACTGAGAATAACATTACGTTTTTTTGCATCTGTCTTAATAAGAAGG c.540
S F V D E L R I T L R F F A S V L I R R p.180
| 07 . . . . . g.40902
ATTCACAAG | GTGGATATTCCATCTATTATAACCAAGAAACTATTAAAAGCAGCAATGAAG c.600
I H K | V D I P S I I T K K L L K A A M K p.200
. . . | 08 . . . g.49058
CATATAGAAGTGATAGTTAAAGCCAGACAGAAAG | TAAAAAATACAGAGTTTTTACAGCAA c.660
H I E V I V K A R Q K V | K N T E F L Q Q p.220
. . . . . . g.49118
GCTGCTTTAGAAGAATATGGTCCAGAGCTTCATGTTGCTTTGAGAAGTCGAAGAGATGAA c.720
A A L E E Y G P E L H V A L R S R R D E p.240
. . . . . . g.49178
TTGCACTATTTAAGGAAACTTACTGAACTGCTTTTTCCTTATATTTTGCCTCCTAAAGCA c.780
L H Y L R K L T E L L F P Y I L P P K A p.260
. | 09 . . . . . g.50584
ACAGACTGCAG | ATCTCTGACCTTACTTATAAGAGAGATTCTGTCTGGCTCTGTGTTCCTT c.840
T D C R | S L T L L I R E I L S G S V F L p.280
. . | 10. . . . g.51394
CCTTCTTTGGATTTCCTAGCTGATCCA | GATACTGTGAATCATTTGCTTATCATCTTCATA c.900
P S L D F L A D P | D T V N H L L I I F I p.300
. | 11 . . . . . g.51562
GATGACAGTCCA | CCTGAAAAAGCAACTGAACCGGCTTCTCCTTTGGTTCCATTCTTGCAG c.960
D D S P | P E K A T E P A S P L V P F L Q p.320
. . . | 12 . . . g.51712
AAATTTGCAGAACCTAGAAATAAAAAGCCATCT | GTGCTGAAGTTAGAATTGAAGCAAATC c.1020
K F A E P R N K K P S | V L K L E L K Q I p.340
. . . . . . g.51772
AGAGAGCAACAAGATCTTTTATTTCGTTTTATGAACTTTCTGAAACAAGAAGGCGCAGTG c.1080
R E Q Q D L L F R F M N F L K Q E G A V p.360
. . | 13 . . . g.55183
CACGTGTTGCAGTTTTGTTTGACTGTGG | AGGAATTTAATGATAGAATTTTACGACCAGAA c.1140
H V L Q F C L T V E | E F N D R I L R P E p.380
. . . . . . g.55243
TTATCAAATGATGAAATGCTGTCTCTTCATGAAGAATTGCAGAAGATTTATAAAACATAC c.1200
L S N D E M L S L H E E L Q K I Y K T Y p.400
. . . . . . g.55303
TGTTTGGATGAAAGTATTGACAAAATTAGATTTGATCCCTTCATTGTAGAAGAGATTCAA c.1260
C L D E S I D K I R F D P F I V E E I Q p.420
| 14 . . . . . . g.55661
AGAA | TTGCTGAAGGCCCATACATAGATGTTGTGAAACTTCAAACTATGAGATGTCTTTTT c.1320
R I | A E G P Y I D V V K L Q T M R C L F p.440
. . . . . . g.55721
GAAGCATATGAACATGTTCTTTCCCTTTTGGAGAATGTATTTACTCCTATGTTCTGCCAT c.1380
E A Y E H V L S L L E N V F T P M F C H p.460
| 15 . . . . . g.56919
AGTGATGAG | TATTTCAGACAACTTTTAAGAGGTGCAGAATCACCAACACGCAATTCAAAA c.1440
S D E | Y F R Q L L R G A E S P T R N S K p.480
| 16 . . | 17 . . . g.62012
TTGAACAG | AGGTAGCCTAAGTTTGGATGATTTTCG | GAACACACAGAAAAGGGGAGAATCA c.1500
L N R | G S L S L D D F R | N T Q K R G E S p.500
. . . . . . g.62072
TTTGGAATCAGCAGAATAGGTAGCAAAATTAAAGGAGTATTCAAAAGTACCACAATGGAG c.1560
F G I S R I G S K I K G V F K S T T M E p.520
. . . . | 18 . g.65123
GGAGCTATGTTGCCTAATTATGGTGTAGCTGAAGGTGAAGATGATTTT | ATTGAAGAAGGT c.1620
G A M L P N Y G V A E G E D D F | I E E G p.540
. . . . . . g.65183
ATTGTTGTAATGGAAGATGATTCTCCAGTGGAGGCTGTGAGCACACCTAATACTCCCCGA c.1680
I V V M E D D S P V E A V S T P N T P R p.560
. . . . . . g.65243
AACCTTGCTGCATGGAAAATTAGCATTCCATATGTAGACTTTTTTGAGGATCCCTCCTCT c.1740
N L A A W K I S I P Y V D F F E D P S S p.580
. . . . . . g.65303
GAAAGGAAGGAGAAAAAAGAAAGAATTCCTGTGTTTTGTATTGATGTTGAAAGAAATGAT c.1800
E R K E K K E R I P V F C I D V E R N D p.600
. | 19 . . . . . g.68686
AGAAGAGCAG | TTGGACACGAGCCTGAACATTGGTCTGTCTATAGAAGATATCTTGAATTC c.1860
R R A V | G H E P E H W S V Y R R Y L E F p.620
. . . | 20 . . . g.70575
TATGTACTTGAATCAAAACTAACAGAATTTCATG | GTGCATTTCCTGATGCCCAGCTTCCT c.1920
Y V L E S K L T E F H G | A F P D A Q L P p.640
. . . . . . g.70635
TCTAAGAGGATCATTGGCCCCAAAAATTATGAATTCTTAAAGTCAAAGAGGGAAGAGTTC c.1980
S K R I I G P K N Y E F L K S K R E E F p.660
. | 21 . . . . . g.72719
CAAGAATATCTACAG | AAACTTCTGCAGCATCCAGAACTGAGTAATAGTCAACTTCTGGCA c.2040
Q E Y L Q | K L L Q H P E L S N S Q L L A p.680
. . . . . . g.72779
GACTTTCTTTCCCCTAATGGTGGGGAAACACAATTTCTTGATAAGATACTACCAGATGTA c.2100
D F L S P N G G E T Q F L D K I L P D V p.700
| 22. . . . | 23 . g.81048
AATCTTG | GGAAAATTATAAAATCTGTTCCTGGAAAACTAATGAAAGAG | AAAGGTCAGCAT c.2160
N L G | K I I K S V P G K L M K E | K G Q H p.720
. . . . . . g.81108
TTGGAACCTTTTATCATGAATTTCATTAATTCTTGTGAGTCTCCAAAGCCTAAACCAAGT c.2220
L E P F I M N F I N S C E S P K P K P S p.740
. . . . | 24 . g.84294
AGACCAGAACTGACCATTCTCAGCCCTACTTCAGAAAACAACAAGAAG | CTTTTCAATGAT c.2280
R P E L T I L S P T S E N N K K | L F N D p.760
. . . . . . g.84354
CTGTTTAAAAATAATGCAAACCGTGCTGAAAATACAGAGAGAAAGCAAAATCAGAATTAT c.2340
L F K N N A N R A E N T E R K Q N Q N Y p.780
. . . . . | 25 . g.84685
TTTATGGAGGTGATGACTGTAGAAGGAGTCTATGATTACCTGATGTATGTAG | GACGGGTA c.2400
F M E V M T V E G V Y D Y L M Y V G | R V p.800
. . . . . . g.84745
GTTTTCCAGGTTCCTGACTGGCTTCATCATCTCTTAATGGGAACTCGAATCCTCTTTAAA c.2460
V F Q V P D W L H H L L M G T R I L F K p.820
. . . . . . g.84805
AACACCCTGGAAATGTATACTGATTACTATCTTCAGTGTAAACTAGAACAGCTATTTCAG c.2520
N T L E M Y T D Y Y L Q C K L E Q L F Q p.840
. . . | 26. . . g.85039
GAGCACCGTTTGGTCTCACTCATAACACTTCTCAGAG | ATGCTATATTCTGTGAAAACACT c.2580
E H R L V S L I T L L R D | A I F C E N T p.860
. . . . . . g.85099
GAACCTCGCTCTCTCCAAGATAAGCAAAAAGGAGCAAAACAGACTTTTGAAGAAATGATG c.2640
E P R S L Q D K Q K G A K Q T F E E M M p.880
. | 27 . . . . . g.90899
AATTACATTCCAG | ATCTGTTAGTCAAGTGTATTGGTGAAGAAACCAAGTATGAAAGCATC c.2700
N Y I P D | L L V K C I G E E T K Y E S I p.900
. . . . | 28 . . g.91637
AGACTTCTGTTTGATGGCTTACAGCAACCAGTACTCAACAAGCAG | CTGACTTATGTTTTA c.2760
R L L F D G L Q Q P V L N K Q | L T Y V L p.920
. . . . | 29 . . g.92924
TTGGACATTGTGATACAGGAACTGTTTCCAGAGCTCAATAAG | GTACAAAAGGAAGTTACC c.2820
L D I V I Q E L F P E L N K | V Q K E V T p.940
. . g.92945
TCTGTGACATCTTGGATGTAA c.2841
S V T S W M X p.946
. . . . . . g.93005
acacttggatttggtatagaataacccattgaaatttctgctgtgcgagggtggtagaaa c.*60
. . . . . . g.93065
tttacttttttgggtatattcttatatatattatgtacatcgctgtctgaaattttagtt c.*120
. . . . . . g.93125
attttttgtttttaataaagactaacacaaacttaatgattaaaagtgattgagtctcat c.*180
. . . . . . g.93185
agtctttcatttgctagctgtgatccaaattttattagaacataagtcacttgttattgc c.*240
. . . . . . g.93245
catttttaaaagagaaaattcataatgatgttatggcaaacagataagactgataaactt c.*300
. . . . . . g.93305
cgtattgtatagctttgaaaataattatgcctagtatggagaaacaggaataagatctga c.*360
. . . . . . g.93365
ttttcttagagttaatatattttagtagattggttttccttttttttattttgtacatag c.*420
. . . . . g.93416
ttaactgtgtatctataaataaagcatcctatatgagtttttaataataaa c.*471
(downstream sequence)
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