(used for variant description)
(last modified April 8, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_022154.5 in the SLC39A8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering SLC39A8 transcript NM_022154.5.
(upstream sequence)
. . . . g.5356
ggcggagagaataaagcagaaagacaggaagaggaggtggagttctaca c.-481
. . . . . . g.5416
gttagtgtggttttagtttttcctaagaagtggcgtggtttggggctttatatccgggag c.-421
. . . . . . g.5476
gagcatatgtacgcaaatcctggggcgtttgcaaacccggatccggggcgtctggcccca c.-361
. . . . . . g.5536
tgcccggccgggcgtttgagggctactgccacgcagcgtttctggagcctgccggctggt c.-301
. . . . . . g.5596
gccctggtggcctttatctctgtccccctttgtcctctttatctcaggctctccaggagg c.-241
. . . . . . g.5656
ccggggggcccactccgcctatcgctcccctcggctacgctgccacttcaatgccccgca c.-181
. . . . . . g.5716
ggtcgcgagctgctgttctttcgaaggcgtcggagaaccaggggcgtcccgcgccacctc c.-121
. . . . . . g.5776
tgactcggagcagcgccgagcactgacgctcccgcccttgggcaaggacgccagtgcgcc c.-61
. . . . . . g.5836
cgcgcgcgtccctctgcgcggcagcccgtcgcgggccctcaaggggaagcccaggccagg c.-1
. . . . . . g.5896
ATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGAGGA c.60
M A P G R A V A G L L L L A A A G L G G p.20
. . . . . . g.5956
GTGGCGGAGGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAAT c.120
V A E G P G L A F S E D V L S V F G A N p.40
. . . . . . g.6016
CTGAGCCTGTCGGCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGC c.180
L S L S A A Q L Q H L L E Q M G A A S R p.60
. . . | 02 . . g.34689
GTGGGCGTCCCGGAGCCTGGCCAGCTGCACTTCAACCAG | TGTTTAACTGCTGAAGAGATC c.240
V G V P E P G Q L H F N Q | C L T A E E I p.80
. . . . . . g.34749
TTTTCCCTTCATGGCTTTTCAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATC c.300
F S L H G F S N A T Q I T S S K F S V I p.100
. . . . . . g.34809
TGTCCAGCAGTCTTACAGCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAA c.360
C P A V L Q Q L N F H P C E D R P K H K p.120
. . | 03 . . . . g.42931
ACAAGACCAAGTCATTCAGAAG | TTTGGGGATATGGATTCCTGTCAGTGACGATTATTAAT c.420
T R P S H S E V | W G Y G F L S V T I I N p.140
. . . . . . g.42991
CTGGCATCTCTCCTCGGATTGATTTTGACTCCACTGATAAAGAAATCTTATTTCCCAAAG c.480
L A S L L G L I L T P L I K K S Y F P K p.160
. . . . . . g.43051
ATTTTGACCTTTTTTGTGGGGCTGGCTATTGGGACTCTTTTTTCAAATGCAATTTTCCAA c.540
I L T F F V G L A I G T L F S N A I F Q p.180
. | 04 . . . . . g.45435
CTTATTCCAGAG | GCATTTGGATTTGATCCCAAAGTCGACAGTTATGTTGAGAAGGCAGTT c.600
L I P E | A F G F D P K V D S Y V E K A V p.200
. . . . . . g.45495
GCTGTGTTTGGTGGATTTTACCTACTTTTCTTTTTTGAAAGAATGCTAAAGATGTTATTA c.660
A V F G G F Y L L F F F E R M L K M L L p.220
. | 05 . . . . . g.46062
AAGACATATGGTCAG | AATGGTCATACCCACTTTGGAAATGATAACTTTGGTCCTCAAGAA c.720
K T Y G Q | N G H T H F G N D N F G P Q E p.240
. . . . . . g.46122
AAAACTCATCAACCTAAAGCATTACCTGCCATCAATGGTGTGACATGCTATGCAAATCCT c.780
K T H Q P K A L P A I N G V T C Y A N P p.260
. . . . . . g.46182
GCTGTCACAGAAGCTAATGGACATATCCATTTTGATAATGTCAGTGTGGTATCTCTACAG c.840
A V T E A N G H I H F D N V S V V S L Q p.280
| 06 . . . . . . g.82479
| GATGGAAAAAAAGAGCCAAGTTCATGTACCTGTTTGAAGGGGCCCAAACTGTCAGAAATA c.900
| D G K K E P S S C T C L K G P K L S E I p.300
. . . . . . g.82539
GGGACGATTGCCTGGATGATAACGCTCTGCGATGCCCTCCACAATTTCATCGATGGCCTG c.960
G T I A W M I T L C D A L H N F I D G L p.320
. . . . . . g.82599
GCGATTGGGGCTTCCTGCACCTTGTCTCTCCTTCAGGGACTCAGTACTTCCATAGCAATC c.1020
A I G A S C T L S L L Q G L S T S I A I p.340
. . | 07 . . . g.82856
CTATGTGAGGAGTTTCCCCACGAGTTAG | GAGACTTTGTGATCCTACTCAATGCAGGGATG c.1080
L C E E F P H E L G | D F V I L L N A G M p.360
. . . . . . g.82916
AGCACTCGACAAGCCTTGCTATTCAACTTCCTTTCTGCATGTTCCTGCTATGTTGGGCTA c.1140
S T R Q A L L F N F L S A C S C Y V G L p.380
. . . . . . g.82976
GCTTTTGGCATTTTGGTGGGCAACAATTTCGCTCCAAATATTATATTTGCACTTGCTGGA c.1200
A F G I L V G N N F A P N I I F A L A G p.400
. . . | 08 . . . g.87332
GGCATGTTCCTCTATATTTCTCTGGCAGATATG | TTTCCAGAGATGAATGATATGCTGAGA c.1260
G M F L Y I S L A D M | F P E M N D M L R p.420
. . . . . . g.87392
GAAAAGGTAACTGGAAGAAAAACCGATTTCACCTTCTTCATGATTCAGAATGCTGGAATG c.1320
E K V T G R K T D F T F F M I Q N A G M p.440
. . . . . . g.87452
TTAACTGGATTCACAGCCATTCTACTCATTACCTTGTATGCAGGAGAAATCGAATTGGAG c.1380
L T G F T A I L L I T L Y A G E I E L E p.460
g.87455
TAA c.1383
X p.460
. . . . . . g.87515
tagaaaatggaagatggtgttgttaataaaggcatttaatagataaaaacatctccaaaa c.*60
. . . . . . g.87575
aggattttgaagctgatcctatttagttaaaaagataattttgctttcaactgtaggtcc c.*120
. . . . . . g.87635
agaaaactaattattggcatcagtctgtgaaatagtccattatttgttgttaaaaatgct c.*180
. . . . . . g.87695
tcaaaaggttttcagtgtcagtctgagatgcctggtatataggagcctttgggaaatacc c.*240
. . . . . . g.87755
tatttttcagtattccatgcatattagatatcaccatgaagcaagagacatgcattctat c.*300
. . . . . . g.87815
aatcatgtagacactcagactcaggggaaaatacaagttatatcctgaaagcctttaaaa c.*360
. . . . . . g.87875
ctctatggtaggatcaaagattcaaatggtttcagagaggttttatttcaattaatttgt c.*420
. . . . . . g.87935
tctagtgctttcaagagcaagtacatcaaaatgtagaaggtaaaatgtatgcaacactaa c.*480
. . . . . . g.87995
tataaattattccaagtctttaaggagccaaagaaaaaaaagatttctcacagctttttg c.*540
. . . . . . g.88055
ttctgttttgtatttcaattaggaacttgcagtattattttgaaaaccattctaaaataa c.*600
. . . . . . g.88115
taggagttaggaaataaataaagttttgctagccctgctaagttcaggcttagaggctta c.*660
. . . . . . g.88175
tcgctaagtataaacttcaccagattccacgaaaagctggatagctttttttctgactta c.*720
. . . . . . g.88235
tgttgtggttgcacccctcacaaatggcagaacagtatgtaaagctggtaacacctcggt c.*780
. . . . . . g.88295
ttcagtgcaccatgtgtttgctttgtgaaggtgaagaatatgttggtttagagaaagaaa c.*840
. . . . . . g.88355
ttggatgtaattttatgcaatttacttttaaagacaaacataactatttagcagagaata c.*900
. . . . . . g.88415
ttttaataaatgcaaaacaacagctggactgctgtacatcaaggacagattaactggaaa c.*960
. . . . . . g.88475
acatatgttccttatgtgtgatcgagagccattcagaaaagacttcctttgtgttcagcc c.*1020
. . . . . . g.88535
tatacttttccatatggtataccttgaaaaaaattagcacaccatggttatttttctacc c.*1080
. . . . . . g.88595
ttttataaaagacagagcctgtttactcatttagaagatagagaaaattggtctaaaatt c.*1140
. . . . . . g.88655
gaacatcctagattcacactcccaagtcacttaaggtgatttgatggtgaggaaaatgat c.*1200
. . . . . . g.88715
tgacaaagcccaacaatgatctcaggaattacattttccaacagaccaaaaaatgttttc c.*1260
. . . . . . g.88775
atgtagcagcaatgcagatttggtgaatatttaatatatattttagtatgtatttcactt c.*1320
. . . . . . g.88835
tatgactgacaattaaaaaatattgtttggccaaatagtaaacacccttttgaaaccatg c.*1380
(downstream sequence)
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