ENST00000599343.5 SCN8A

Information
Transcript ID
ENST00000599343.5
Genome
hg38
Position
chr12:51,662,818-51,807,429
Strand
+
CDS length
5,976
Amino acid length
1,992
Gene symbol
SCN8A
Gene type
protein-coding
Gene description
sodium voltage-gated channel alpha subunit 8
Gene Entrez Gene ID
6334
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Filtering :
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 :
Search word :
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
1 51,662,818 51,663,093
2 51,684,174 51,684,292
3 51,686,368 51,686,457
4 51,687,091 51,687,219
5 51,688,758 51,688,849
6 51,699,570 51,699,791
7 51,701,144 51,701,207
8 51,702,773 51,702,914
9 51,705,417 51,705,623
10 51,706,422 51,706,715
11 51,721,546 51,721,941
12 51,745,903 51,746,035
13 51,751,355 51,751,593
14 51,762,503 51,762,676
15 51,765,671 51,766,027
16 51,768,865 51,769,335
17 51,769,868 51,769,985
18 51,770,529 51,770,683
19 51,774,189 51,774,362
20 51,780,649 51,780,771
21 51,786,542 51,786,826
22 51,788,695 51,788,748
23 51,789,281 51,789,418
24 51,790,398 51,790,502
25 51,794,371 51,794,641
26 51,806,282 51,807,429
CDS
Exon number Type Start Stop
1 CDS 51,662,818 51,663,093
2 CDS 51,684,174 51,684,292
3 CDS 51,686,368 51,686,457
4 CDS 51,687,091 51,687,219
5 CDS 51,688,758 51,688,849
6 CDS 51,699,570 51,699,791
7 CDS 51,701,144 51,701,207
8 CDS 51,702,773 51,702,914
9 CDS 51,705,417 51,705,623
10 CDS 51,706,422 51,706,715
11 CDS 51,721,546 51,721,941
12 CDS 51,745,903 51,746,035
13 CDS 51,751,355 51,751,593
14 CDS 51,762,503 51,762,676
15 CDS 51,765,671 51,766,027
16 CDS 51,768,865 51,769,335
17 CDS 51,769,868 51,769,985
18 CDS 51,770,529 51,770,683
19 CDS 51,774,189 51,774,362
20 CDS 51,780,649 51,780,771
21 CDS 51,786,542 51,786,826
22 CDS 51,788,695 51,788,748
23 CDS 51,789,281 51,789,418
24 CDS 51,790,398 51,790,502
25 CDS 51,794,371 51,794,641
26 CDS 51,806,282 51,807,429
CDS sequence
ATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCACCCCTGAGTCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAAGCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTGCAGTTCCCCTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGGAAAACTCTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTGATAAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCATTATGTGCACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAATGTGGAGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTGACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAGAATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCCCTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTACAGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAACAGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGCGGGCGTCTCCTGCCAGAGGTGAAAATTGATAAGGCAGCTACCGATGACAGTGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTGGTTTTCACTGGAATTTTCACAGCGGAAATGTTCCTGAAGCTCATAGCCATGGATCCCTACTATTATTTCCAAGAAGGTTGGAACATTTTTGACGGATTTATTGTCTCCCTCAGTTTAATGGAACTGAGTCTAGCAGACGTGGAGGGGCTTTCAGTGCTGCGATCTTTCCGATTGCTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACCCTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTGGTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGCTACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCATGACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACCATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTCATGGTGATTGGCAACTTGGTGGTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTCAGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCAGTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAGGCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAGAAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAGAAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGATGAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTGGGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAAGGCAGCAAAGATAAACTAGATGACACCAGCTCCTCTGAAGGAAGCACCATTGATATCAAACCAGAAGTAGAAGAGGTCCCTGTGGAACAGCCTGAGGAATACTTGGATCCAGATGCCTGCTTCACAGAAGGTTGTGTCCAGCGGTTCAAGTGCTGCCAGGTCAACATCGAGGAAGGGCTAGGCAAGTCTTGGTGGATCCTGCGGAAAACCTGCTTCCTCATCGTGGAGCACAACTGGTTTGAGACCTTCATCATCTTCATGATTCTGCTGAGCAGTGGCGCCCTGGCCTTCGAGGACATCTACATTGAGCAGAGAAAGACCATCCGCACCATCCTGGAATATGCTGACAAAGTCTTCACCTATATCTTCATCCTGGAGATGTTGCTCAAGTGGACAGCCTATGGCTTCGTCAAGTTCTTCACCAATGCCTGGTGTTGGCTGGACTTCCTCATTGTGGCTGTCTCTTTAGTCAGCCTTATAGCTAATGCCCTGGGCTACTCGGAACTAGGTGCCATAAAGTCCCTTAGGACCCTAAGAGCTTTGAGACCCTTAAGAGCCTTATCACGATTTGAAGGGATGAGGGTGGTGGTGAATGCCTTGGTGGGCGCCATCCCCTCCATCATGAATGTGCTGCTGGTGTGTCTCATCTTCTGGCTGATTTTCAGCATCATGGGAGTTAACTTGTTTGCGGGAAAGTACCACTACTGCTTTAATGAGACTTCTGAAATCCGATTTGAAATTGAAGATGTCAACAATAAAACTGAATGTGAAAAGCTTATGGAGGGGAACAATACAGAGATCAGATGGAAGAACGTGAAGATCAACTTTGACAATGTTGGGGCAGGATACCTGGCCCTTCTTCAAGTAGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGCCTGATGAGCAGCCTAAGTATGAGGACAATATCTACATGTACATCTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTTCATTGGTGTCATCATTGATAACTTCAATCAACAAAAGAAAAAGTTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAGAAACCTATTCCCCGCCCCTTGAACAAAATCCAAGGAATCGTCTTTGATTTTGTCACTCAGCAAGCCTTTGACATTGTTATCATGATGCTCATCTGCCTTAACATGGTGACAATGATGGTGGAGACAGACACTCAAAGCAAGCAGATGGAGAACATCCTCTACTGGATTAACCTGGTGTTTGTTATCTTCTTCACCTGTGAGTGTGTGCTCAAAATGTTTGCGTTGAGGCACTACTACTTCACCATTGGCTGGAACATCTTCGACTTCGTGGTAGTCATCCTCTCCATTGTGGGAATGTTCCTGGCAGATATAATTGAGAAATACTTTGTTTCCCCAACCCTATTCCGAGTCATCCGATTGGCCCGTATTGGGCGCATCTTGCGTCTGATCAAAGGCGCCAAAGGGATTCGTACCCTGCTCTTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCCTGGTCATGTTCATCTTCTCCATTTTTGGGATGTCCAATTTTGCATATGTGAAGCACGAGGCTGGTATCGATGACATGTTCAACTTTGAGACATTTGGCAACAGCATGATCTGCCTGTTTCAAATCACAACCTCAGCTGGTTGGGATGGCCTGCTGCTGCCCATCCTAAACCGCCCCCCTGACTGCAGCCTAGATAAGGAACACCCAGGGAGTGGCTTTAAGGGAGATTGTGGGAACCCCTCAGTGGGCATCTTCTTCTTTGTAAGCTACATCATCATCTCTTTCCTAATTGTCGTGAACATGTACATTGCCATCATCCTGGAGAACTTCAGTGTAGCCACAGAGGAAAGTGCAGACCCTCTGAGTGAGGATGACTTTGAGACCTTCTATGAGATCTGGGAGAAGTTCGACCCCGATGCCACCCAGTTCATTGAGTACTGTAAGCTGGCAGACTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTGCCCAAGCCCAATACCATTGAGCTCATCGCTATGGATCTGCCAATGGTGAGCGGGGATCGCATCCACTGCTTGGACATCCTTTTTGCCTTCACCAAGCGGGTCCTGGGAGATAGCGGGGAGTTGGACATCCTGCGGCAGCAGATGGAAGAGCGGTTCGTGGCATCCAATCCTTCCAAAGTGTCTTACGAGCCAATCACAACCACACTGCGTCGCAAGCAGGAGGAGGTATCTGCAGTGGTCCTGCAGCGTGCCTACCGGGGACATTTGGCAAGGCGGGGCTTCATCTGCAAAAAGACAACTTCTAATAAGCTGGAGAATGGAGGCACACACCGGGAGAAAAAAGAGAGCACCCCATCTACAGCCTCCCTCCCGTCCTATGACAGTGTAACTAAACCTGAAAAGGAGAAACAGCAGCGGGCAGAGGAAGGAAGAAGGGAAAGAGCCAAAAGACAAAAAGAGGTCAGAGAATCCAAGTGTTAG
Amino sequence
MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEVKIDKAATDDSATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKTTSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC*