(used for variant description)
(last modified January 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003052.4 in the SLC34A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016223.1, covering SLC34A1 transcript NM_003052.4.
(upstream sequence)
. . . . g.5044
agggtcctggaggcttcattgagctgctgagcagaagctgaaac c.-61
. . | 02 . . . . g.6311
acagaattctaag | cgttgctgagacccactgacctgcagacctcatagtgggtgcccagg c.-1
. . . . . . g.6371
ATGTTGTCCTACGGAGAGAGGCTGGGGTCCCCTGCTGTCTCCCCACTCCCAGTCCGTGGG c.60
M L S Y G E R L G S P A V S P L P V R G p.20
. . . . | 03 . g.6567
GGGCATGTGATGCGAGGGACGGCCTTTGCCTACGTGCCCAGCCCTCAGG | TCCTACACAGG c.120
G H V M R G T A F A Y V P S P Q V | L H R p.40
. . . . . . g.6627
ATCCCGGGGACCTCTGCCTATGCCTTCCCCAGCCTGGGCCCTGTGGCCCTTGCTGAGCAC c.180
I P G T S A Y A F P S L G P V A L A E H p.60
. . . . . . g.6687
ACCTGCCCCTGTGGGGAGGTCCTGGAGCGCCATGAACCACTGCCTGCCAAGCTGGCCCTG c.240
T C P C G E V L E R H E P L P A K L A L p.80
. | 04 . . . . g.6831
GAGGAGGAGCAGAAGCCAG | AGTCCAGGCTGGTCCCCAAGCTGCGCCAGGCTGGCGCCATG c.300
E E E Q K P E | S R L V P K L R Q A G A M p.100
. . . . . . g.6891
CTGCTCAAGGTGCCACTGATGCTCACCTTCCTCTACCTCTTCGTCTGCTCCCTGGACATG c.360
L L K V P L M L T F L Y L F V C S L D M p.120
. . | 05 . . . g.7024
CTCAGCTCGGCCTTCCAGCTGGCTGGAG | GGAAGGTGGCTGGTGACATCTTCAAGGATAAC c.420
L S S A F Q L A G G | K V A G D I F K D N p.140
. . . . . . g.7084
GCCATCCTGTCCAACCCGGTGGCCGGGCTGGTGGTGGGGATCCTGGTGACCGTGCTGGTG c.480
A I L S N P V A G L V V G I L V T V L V p.160
. . . . . | 06 . g.8339
CAGAGCTCCAGCACCTCCACATCCATCATCGTCAGCATGGTCTCCTCTGGCT | TGCTGGAG c.540
Q S S S T S T S I I V S M V S S G L | L E p.180
. . . . . . g.8399
GTGAGCTCTGCCATCCCCATCATCATGGGCTCCAACATCGGCACCTCTGTCACCAACACC c.600
V S S A I P I I M G S N I G T S V T N T p.200
. . . . | 07 . . g.8579
ATCGTGGCCCTGATGCAGGCGGGGGACAGGACTGACTTCCGGCG | GGCCTTCGCGGGGGCC c.660
I V A L M Q A G D R T D F R R | A F A G A p.220
. . . . . . g.8639
ACGGTGCATGACTGCTTTAACTGGCTGTCAGTGCTGGTCCTGCTGCCCCTGGAGGCTGCC c.720
T V H D C F N W L S V L V L L P L E A A p.240
. . . . . . g.8699
ACTGGCTACCTGCACCACATCACTCGACTTGTGGTGGCCTCCTTCAACATCCATGGTGGC c.780
T G Y L H H I T R L V V A S F N I H G G p.260
. . . . . . g.8759
CGTGATGCTCCTGACCTGCTCAAGATCATCACAGAGCCCTTCACGAAGCTCATCATCCAG c.840
R D A P D L L K I I T E P F T K L I I Q p.280
| 08 . . . . . . g.8906
| CTGGACGAGTCTGTGATAACCAGCATTGCCACTGGTGATGAGTCCCTGAGGAACCACAGT c.900
| L D E S V I T S I A T G D E S L R N H S p.300
. . . | 09 . . . g.14287
CTCATCCAGATCTGGTGCCACCCAGACTCCTTACAG | GCTCCCACCTCCATGTCCAGAGCA c.960
L I Q I W C H P D S L Q | A P T S M S R A p.320
. . . . | 10 . . g.14611
GAGGCCAACTCCAGCCAGACCCTTGGAAATGCCACCATGGAGAAAT | GCAACCACATCTTT c.1020
E A N S S Q T L G N A T M E K C | N H I F p.340
. . . . . . g.14671
GTGGACACTGGCCTACCGGACCTGGCTGTGGGGCTCATCCTGCTGGCAGGATCCCTGGTG c.1080
V D T G L P D L A V G L I L L A G S L V p.360
. . . . . . g.14731
CTGCTGTGCACCTGCCTCATCCTCCTAGTCAAGATGCTCAACTCCCTGCTCAAGGGCCAA c.1140
L L C T C L I L L V K M L N S L L K G Q p.380
. . . | 11 . . . g.17328
GTGGCCAAGGTCATCCAGAAGGTCATCAATACGG | ACTTCCCTGCCCCCTTCACCTGGGTC c.1200
V A K V I Q K V I N T D | F P A P F T W V p.400
. . . . . . g.17388
ACAGGCTACTTTGCCATGGTGGTGGGCGCCAGCATGACCTTCGTGGTCCAGAGCAGTTCT c.1260
T G Y F A M V V G A S M T F V V Q S S S p.420
. . . | 12 . . . g.17548
GTGTTCACCTCGGCCATCACCCCACTCATCG | GTCTTGGTGTGATCAGCATTGAGAGGGCC c.1320
V F T S A I T P L I G | L G V I S I E R A p.440
. . . . . . g.17608
TACCCGCTCACACTGGGTTCCAACATCGGCACCACCACCACGGCCATCCTGGCTGCCCTG c.1380
Y P L T L G S N I G T T T T A I L A A L p.460
. . . | 13 . . . g.18376
GCCAGCCCCAGGGAGAAGCTGTCCAGCGCTTTCCAG | ATTGCCCTCTGTCACTTCTTCTTC c.1440
A S P R E K L S S A F Q | I A L C H F F F p.480
. . . . . . g.18436
AACATCTCGGGTATCCTTCTGTGGTACCCGGTGCCCTGCACACGCCTGCCCATCCGCATG c.1500
N I S G I L L W Y P V P C T R L P I R M p.500
. . . . . . g.18496
GCCAAGGCGCTGGGGAAACGCACGGCCAAGTACCGCTGGTTTGCCGTCCTCTATCTCCTT c.1560
A K A L G K R T A K Y R W F A V L Y L L p.520
. . . . . . g.18556
GTCTGCTTCCTGCTGCTGCCCTCACTGGTGTTTGGCATCTCCATGGCAGGCTGGCAGGTC c.1620
V C F L L L P S L V F G I S M A G W Q V p.540
. . . . . . g.18616
ATGGTAGGTGTGGGCACGCCCTTCGGGGCCCTGCTGGCCTTCGTGGTGCTCATCAATGTC c.1680
M V G V G T P F G A L L A F V V L I N V p.560
. . . . . . g.18676
CTGCAGAGTCGGAGTCCCGGGCACCTGCCCAAGTGGTTACAGACATGGGACTTCCTGCCT c.1740
L Q S R S P G H L P K W L Q T W D F L P p.580
. . . . . . g.18736
CGCTGGATGCACTCCCTGAAGCCCCTGGACCACCTCATCACCCGCGCCACCCTATGCTGT c.1800
R W M H S L K P L D H L I T R A T L C C p.600
. . . . . . g.18796
GCCAGGCCTGAGCCCCGCTCACCCCCGCTGCCCCCCAGGGTCTTCCTGGAGGAGCTACCC c.1860
A R P E P R S P P L P P R V F L E E L P p.620
. . . . . . g.18856
CCTGCCACACCCTCCCCCCGTCTTGCACTGCCTGCTCACCACAATGCCACCCGCCTCTAG c.1920
P A T P S P R L A L P A H H N A T R L X p.639
. . . . . . g.18916
gctgtgggcccagactacagcctggaatggggaaggcctggggtggaaaggcaggggagg c.*60
. . . . . . g.18976
gagggtgtgtgtaggtatgtgcatgtgcctgtgccaccctgggtgccagtctctccttct c.*120
. . . . . . g.19036
gtagctccgcaaagctctgggcttgtgtgagagtgtcggtgtgtgtgcatgtgtgggggt c.*180
. . . . . . g.19096
gagtctgcatgtgcacctgtcatgtgtagaagcttgtatttgtgtacaggtgtgccagcc c.*240
. . . . . . g.19156
catgcaggtgtacacagacacacctgtgggaggctgtgtgcaggctgcaggatatctggg c.*300
. . . . . . g.19216
tatgatttcaggtcctctgcacgtgtacacatgactaggataggcaggagtaagggtggg c.*360
. . . . . . g.19276
tctgggtatatgactgtgcagctgtttgtgcatagatgttggtgcctgcgttactgaatt c.*420
. . . . . . g.19336
tgcacacctccttgccaccttccttcctccaagataccatctcctcatcctaacccaggt c.*480
. . . . . . g.19396
cttcggcaccaccacaattaattcccttcccaacacttgcctgatggaaaaaaaacaaag c.*540
. . g.19418
gaattaaaactctcctcaggca c.*562
(downstream sequence)
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