ENST00000430352.6 ABCA8

Information
Transcript ID
ENST00000430352.6
Genome
hg38
Position
chr17:68,867,292-68,955,392
Strand
-
CDS length
4,851
Amino acid length
1,617
Gene symbol
ABCA8
Gene type
protein-coding
Gene description
ATP binding cassette subfamily A member 8
Gene Entrez Gene ID
10351
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
39 68,867,292 68,868,183
38 68,868,301 68,868,356
37 68,869,700 68,869,779
36 68,875,260 68,875,400
35 68,875,614 68,875,733
34 68,876,460 68,876,554
33 68,876,628 68,876,703
32 68,877,519 68,877,679
31 68,881,120 68,881,211
30 68,881,863 68,881,980
29 68,882,599 68,882,704
28 68,883,791 68,883,882
27 68,884,331 68,884,396
26 68,885,196 68,885,315
25 68,887,017 68,887,130
24 68,887,336 68,887,506
23 68,891,489 68,891,596
22 68,894,173 68,894,310
21 68,894,880 68,895,013
20 68,902,713 68,902,879
19 68,903,301 68,903,499
18 68,906,044 68,906,163
17 68,907,740 68,907,879
16 68,917,361 68,917,451
15 68,918,047 68,918,185
14 68,918,427 68,918,546
13 68,919,301 68,919,476
12 68,921,382 68,921,492
11 68,922,242 68,922,300
10 68,924,701 68,924,869
9 68,927,916 68,928,063
8 68,929,049 68,929,234
7 68,929,561 68,929,702
6 68,932,288 68,932,514
5 68,933,168 68,933,271
4 68,936,951 68,937,115
3 68,940,758 68,940,962
2 68,941,939 68,942,039
1 68,955,219 68,955,392
CDS
Exon number Type Start Stop
39 CDS 68,868,085 68,868,183
38 CDS 68,868,301 68,868,356
37 CDS 68,869,700 68,869,779
36 CDS 68,875,260 68,875,400
35 CDS 68,875,614 68,875,733
34 CDS 68,876,460 68,876,554
33 CDS 68,876,628 68,876,703
32 CDS 68,877,519 68,877,679
31 CDS 68,881,120 68,881,211
30 CDS 68,881,863 68,881,980
29 CDS 68,882,599 68,882,704
28 CDS 68,883,791 68,883,882
27 CDS 68,884,331 68,884,396
26 CDS 68,885,196 68,885,315
25 CDS 68,887,017 68,887,130
24 CDS 68,887,336 68,887,506
23 CDS 68,891,489 68,891,596
22 CDS 68,894,173 68,894,310
21 CDS 68,894,880 68,895,013
20 CDS 68,902,713 68,902,879
19 CDS 68,903,301 68,903,499
18 CDS 68,906,044 68,906,163
17 CDS 68,907,740 68,907,879
16 CDS 68,917,361 68,917,451
15 CDS 68,918,047 68,918,185
14 CDS 68,918,427 68,918,546
13 CDS 68,919,301 68,919,476
12 CDS 68,921,382 68,921,492
11 CDS 68,922,242 68,922,300
10 CDS 68,924,701 68,924,869
9 CDS 68,927,916 68,928,063
8 CDS 68,929,049 68,929,234
7 CDS 68,929,561 68,929,702
6 CDS 68,932,288 68,932,514
5 CDS 68,933,168 68,933,271
4 CDS 68,936,951 68,937,115
3 CDS 68,940,758 68,940,962
2 CDS 68,941,939 68,942,034
Other genome
Genome Chromosome Start End Links
hg19 chr17 66,863,433 66,951,533 Link
CDS sequence
ATGAGGAAGAGAAAGATCAGTGTGTGTCAACAAACTTGGGCCTTATTATGCAAGAACTTTCTTAAAAAATGGAGAATGAAAAGAGAGTCCTTAATGGAATGGCTGAATTCATTGCTCCTACTACTTTGTTTGTATATATATCCTCATAGTCATCAAGTAAATGATTTTTCTTCACTGCTTACCATGGACCTGGGACGGGTAGATACATTTAATGAATCCAGATTTTCTGTTGTATACACACCTGTCACCAACACGACCCAACAGATAATGAATAAAGTAGCCTCTACTCCCTTCCTGGCAGGTAAAGAGGTCTTGGGACTGCCAGATGAGGAAAGTATTAAAGAATTCACAGCAAATTATCCTGAAGAAATAGTAAGAGTCACCTTTACTAATACATACTCATATCATTTGAAGTTCTTGCTAGGACATGGAATGCCAGCAAAGAAGGAGCACAAGGACCATACAGCTCATTGTTATGAAACAAATGAAGATGTTTACTGTGAAGTTTCAGTATTTTGGAAGGAAGGTTTTGTGGCTCTTCAAGCTGCCATTAATGCTGCTATTATAGAAATCACAACAAATCACTCAGTGATGGAGGAGCTGATGTCAGTTACTGGAAAAAATATGAAGATGCATTCCTTCATTGGTCAATCAGGAGTTATAACTGATTTGTACCTTTTTTCCTGCATTATTTCATTTTCCTCATTCATTTACTATGCATCTGTTAATGTCACAAGAGAGAGGAAAAGGATGAAGGCCTTGATGACAATGATGGGTCTTCGGGATTCAGCGTTCTGGCTCTCCTGGGGTTTGCTCTATGCTGGTTTCATCTTCATTATGGCCCTTTTCTTGGCACTTGTTATAAGATCTACCCAGTTTATCATTTTGTCTGGCTTCATGGTAGTCTTCAGCCTCTTTCTCCTGTATGGATTATCTTTGGTAGCTTTGGCTTTCTTAATGAGCATCTTGGTAAAGAAATCTTTCCTCACCGGCCTGGTCGTGTTCCTCCTCACTGTCTTTTGGGGGTGTCTGGGGTTCACATCACTGTACAGACACCTTCCTGCATCCTTGGAGTGGATTTTAAGCTTGCTTAGTCCCTTTGCCTTCATGCTTGGAATGGCCCAGCTTTTACACTTGGACTATGATTTGAATTCTAATGCATTTCCTCATCCATCGGACGGCTCAAATCTCATTGTAGCAACAAATTTCATGTTGGCATTTGACACTTGCCTCTATCTGGCATTGGCGATTTACTTTGAAAAAATTTTGCCAAATGAATATGGACATCGACGTCCACCTTTGTTTTTCCTGAAGTCCTCATTTTGGTCTCAAACACAAAAGACTGATCACGTGGCCCTTGAAGATGAAATGGATGCCGATCCTTCATTTCATGACTCTTTTGAACAAGCGCCTCCAGAATTCCAAGGGAAAGAAGCCATCAGAATCAGAAATGTTACAAAAGAATATAAAGGAAAGCCTGATAAAATAGAAGCCTTGAAAGATCTGGTATTTGACATTTACGAAGGCCAAATCACTGCAATACTTGGTCACAGTGGAGCTGGAAAGTCAACACTGCTAAACATTCTTAGTGGGTTGTCTGTTCCCACCAAAGGTTCAGTCACCATCTATAACAATAAGCTTTCAGAAATGGCTGACCTAGAAAATCTCAGCAAGCTGACCGGAGTTTGTCCACAATCCAATGTGCAATTTGACTTCCTCACTGTAAGAGAAAACCTCAGACTCTTTGCTAAAATAAAAGGGATTCTGCCACAAGAAGTGGATAAAGAGATACAAAGGGTTCTGCTGGAATTGGAAATGAAAAATATTCAGGATGTTCTTGCTCAAAACTTAAGTGGTGGACAGAAAAGAAAGCTAACCTTTGGGATTGCCATTTTAGGAGATCCTCAGATTTTCCTGTTGGATGAACCAACTGCTGGATTGGATCCCTTTTCAAGACACCAAGTATGGAACCTTCTGAAAGAACGCAAAACAGACCGCGTGATCCTCTTCAGTACCCAGTTCATGGATGAGGCCGACATCCTGGCGGACAGGAAAGTATTTCTCTCCCAAGGGAAGCTAAAGTGCGCGGGCTCTTCTTTGTTTCTAAAGAAGAAATGGGGGATTGGATATCACTTAAGCTTGCAGTTAAATGAAATATGTGTTGAGGAAAACATAACATCACTTGTTAAACAGCACATCCCTGATGCCAAATTATCAGCCAAAAGCGAAGGAAAACTTATTTATACATTACCCTTAGAAAGAACAAATAAATTTCCAGAACTTTACAAGGATCTTGATAGCTATCCTGACCTAGGAATTGAGAATTATGGTGTTTCCATGACAACTTTGAATGAAGTATTCCTGAAGCTAGAAGGAAAATCTACAATTAATGAATCGGACATTGCTATTTTGGGAGAAGTACAAGCGGAAAAAGCTGACGACACTGAAAGGCTTGTTGAGATGGAACAAGTCCTCTCTTCACTTAACAAGATGAGAAAGACAATAGGTGGTGTGGCTCTCTGGCGACAGCAAATCTGCGCAATTGCAAGGGTTCGCTTGTTAAAGTTAAAGCATGAAAGAAAAGCTCTTTTAGCACTGCTATTAATTCTAATGGCTGGATTTTGCCCTCTTCTTGTGGAGTATACCATGGTGAAAATATATCAAAACAGTTACACCTGGGAACTTTCTCCTCATTTGTATTTCCTTGCTCCTGGACAACAACCACATGACCCTCTCACTCAACTACTGATCATCAATAAAACAGGGGCAAGCATTGATGACTTTATACAGTCTGTGGAGCACCAGAACATAGCTTTAGAAGTGGATGCATTTGGAACTAGAAATGGCACAGATGACCCATCTTATAATGGAGCCATCACAGTGTGTTGTAATGAAAAGAATTACAGCTTTTCGTTAGCATGCAATGCCAAAAGATTGAATTGCTTCCCAGTTCTTATGGACATTGTTAGTAATGGGCTACTTGGAATGGTTAAACCATCAGTACATATCCGAACTGAAAGAAGTACATTTTTGGAGAATGGACAGGACAATCCAATCGGATTCCTGGCATATATCATGTTCTGGCTGGTTTTAACATCGAGTTGCCCACCTTACATTGCCATGAGCAGCATCGATGATTATAAGAACAGAGCTCGGTCCCAGCTACGGATTTCCGGACTCTCCCCTTCTGCTTACTGGTTTGGGCAGGCGCTGGTGGATGTTTCCCTGTACTTCTTGGTCTTCGTTTTTATATATTTAATGAGCTACATTTCAAACTTCGAAGACATGCTACTTACAATAATTCATATTATTCAAATCCCATGTGCTGTTGGTTATTCCTTTTCCCTCATCTTCATGACATACGTGATTTCCTTCATCTTTCGCAAGGGGAGAAAAAATAGTGGCATTTGGTCATTTTGTTTCTATGTTGTCACTGTATTCTCTGTGGCTGGATTTGCGTTCAGTATCTTCGAAAGTGATATTCCATTTATCTTCACTTTTTTAATACCACCTGCCACAATGATTGGCTGTTTGTTCTTATCTTCTCATCTTCTCTTTTCTTCTCTCTTTTCTGAAGAACGAATGGATGTACAGCCATTTCTGGTATTCCTAATTCCTTTCCTTCATTTTATCATTTTTCTTTTTACTCTTCGATGTCTGGAATGGAAGTTTGGAAAGAAATCAATGAGAAAGGATCCTTTCTTTAGTAGTGATGTGTGTCAAAATCCAGAAGAACCAGAAGGAGAGGATGAAGATGTTCAGATGGAAAGAGTGAGAACAGCAAATGCCTTGAATTCTACTAATTTTGATGAGAAGCCAGTCATCATTGCCAGCTGTCTACGCAAGGAGTATGCAGGGAAGAGGAAAGGCTGTTTTTCCAAGAGGAAGAATAAGATAGCCACGAGAAATGTCTCCTTCTGTGTTAGAAAAGGTGAAGTTTTAGGATTATTAGGACACAATGGAGCTGGTAAAAGCACATCCATTAAGGTGATAACTGGAGACACAAAACCAACTGCTGGACAAGTGCTACTGAAAGGGAGCGGTGGAGGGGATGCCCTGGAGTTCCTGGGGTACTGCCCTCAGGAGAACGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCCGCCGTGAAAGGGCTGAGGAAAGGGGATGCTGAGGTTGCCATCACACGGTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGTCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGAGAAAGCTGTGCTTTGTCCTGAGCATACTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTGGCAGGCCATCCGGGCCACCTTTAGAAACACGGAAAGGGGTGCCCTCCTAACCACCCACTACATGGCAGAGGCTGAGGCCGTGTGTGACCGAGTGGCCATCATGGTATCTGGGAGGTTGAGATGTATCGGTTCCATCCAACACCTGAAAAGCAAATTTGGCAAAGATTACCTGCTGGAGATGAAGGTGAAGAACCTGGCACAAGTGGAGCCCCTCCATGCAGAGATCCTGAGGCTTTTCCCCCAGGCTGCTCGGCAGGAAAGGTACTCCTCTCTGATGGTTTATAAGTTGCCAGTGGAAGATGTGCAACCTTTAGCCCAAGCTTTCTTCAAATTAGAGAAGGTTAAACAGAGCTTTGACCTAGAGGAGTACAGCCTCTCACAGTCTACCCTGGAGCAGGTTTTCCTGGAGCTCTCCAAGGAGCAGGAGCTGGGTGATTTTGAGGAGGATTTTGATCCCTCAGTGAAGTGGAAGCTCCTCCCCCAGGAAGAGCCTTAA
Amino sequence
MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFMVVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWILSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFEKILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAIRIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSVTIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQIFLLDEPTAGLDPFSRHQVWNLLKERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEICVEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSMTTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVALWRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLYFLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAITVCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIGFLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLVFVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFCFYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPFLVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFSSDVCQNPEEPEGEDEDVQMERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLGLLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQPLAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEEP*