ENST00000404354.3 SMC1B

Information
Transcript ID
ENST00000404354.3
Genome
hg19
Position
chr22:45,740,339-45,809,500
Strand
-
CDS length
3,486
Amino acid length
1,162
Gene symbol
SMC1B
Gene type
protein-coding
Gene description
structural maintenance of chromosomes 1B
Gene Entrez Gene ID
27127
Variants

Display target variant


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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
23 45,740,339 45,740,538
22 45,741,340 45,741,450
21 45,749,858 45,750,012
20 45,750,839 45,750,995
19 45,754,577 45,754,675
18 45,755,685 45,755,838
17 45,757,719 45,757,864
16 45,758,765 45,758,906
15 45,765,834 45,765,940
14 45,767,351 45,767,467
13 45,768,035 45,768,172
12 45,779,347 45,779,493
11 45,782,747 45,782,926
10 45,785,592 45,785,777
9 45,789,514 45,789,721
8 45,790,565 45,790,647
7 45,792,226 45,792,366
6 45,794,975 45,795,233
5 45,798,213 45,798,451
4 45,802,341 45,802,544
3 45,802,634 45,802,746
2 45,804,591 45,804,779
1 45,809,340 45,809,500
CDS
Exon number Type Start Stop
23 CDS 45,740,437 45,740,538
22 CDS 45,741,340 45,741,450
21 CDS 45,749,858 45,750,012
20 CDS 45,750,839 45,750,995
19 CDS 45,754,577 45,754,675
18 CDS 45,755,685 45,755,838
17 CDS 45,757,719 45,757,864
16 CDS 45,758,765 45,758,906
15 CDS 45,765,834 45,765,940
14 CDS 45,767,351 45,767,467
13 CDS 45,768,035 45,768,172
12 CDS 45,779,347 45,779,493
11 CDS 45,782,747 45,782,926
10 CDS 45,785,592 45,785,777
9 CDS 45,789,514 45,789,721
8 CDS 45,790,565 45,790,647
7 CDS 45,792,226 45,792,366
6 CDS 45,794,975 45,795,233
5 CDS 45,798,213 45,798,451
4 CDS 45,802,341 45,802,544
3 CDS 45,802,634 45,802,746
2 CDS 45,804,591 45,804,779
1 CDS 45,809,340 45,809,448
Other genome
Genome Chromosome Start End Links
hg38 chr22 45,344,458 45,413,619 Link
CDS sequence
ATGGCCCACCTGGAGCTGCTGCTTGTGGAAAATTTCAAGTCGTGGCGGGGCCGCCAGGTCATTGGCCCCTTCCGGAGGTTCACCTGCATCATCGGCCCCAACGGCTCTGGAAAATCTAATGTAATGGATGCACTTAGTTTTGTAATGGGAGAGAAAATAGCTAATTTAAGAGTGAAAAATATTCAAGAACTCATTCATGGAGCACATATTGGAAAACCTATTTCTTCTTCTGCAAGTGTAAAAATTATATATGTGGAGGAAAGTGGCGAAGAGAAAACATTTGCAAGGATTATCCGAGGGGGATGCTCAGAATTTCGCTTTAATGATAATCTTGTGAGTCGTTCTGTTTACATTGCAGAGTTGGAAAAGATAGGCATAATAGTCAAAGCACAAAATTGTTTGGTTTTTCAGGGAACTGTAGAGTCAATTTCAGTGAAGAAACCCAAAGAAAGGACCCAGTTTTTTGAGGAAATCAGCACTTCAGGAGAGCTTATAGGAGAATATGAAGAAAAGAAAAGAAAGTTACAAAAAGCCGAAGAGGATGCACAGTTTAACTTTAATAAGAAAAAAAATATAGCGGCAGAGCGCAGACAAGCAAAATTAGAGAAGGAAGAGGCAGAACGTTACCAGAGTCTCCTTGAAGAACTGAAAATGAACAAGATACAACTGCAGCTTTTTCAACTATACCATAATGAGAAAAAGATTCATCTCCTGAACACCAAGTTAGAGCATGTGAATAGGGATTTGAGTGTCAAAAGAGAGTCTTTGTCTCATCATGAAAACATAGTTAAAGCCAGGAAAAAGGAACATGGAATGCTAACTAGACAACTACAACAAACAGAAAAAGAATTAAAATCGGTTGAAACCCTTTTAAATCAGAAGAGGCCTCAGTACATTAAAGCCAAAGAAAACACTTCTCACCACCTTAAGAAATTAGATGTGGCTAAGAAATCAATAAAGGACAGCGAAAAACAATGTTCTAAACAGGAAGATGATATAAAAGCCCTGGAGACAGAGCTGGCTGATTTAGATGCTGCATGGAGAAGTTTTGAAAAGCAGATTGAGGAAGAAATTTTACATAAAAAGCGAGACATTGAACTGGAAGCCAGTCAGCTGGATCGTTATAAAGAACTTAAGGAACAAGTAAGAAAGAAAGTAGCTACAATGACTCAACAACTGGAAAAACTGCAGTGGGAACAGAAGACAGATGAAGAAAGACTGGCATTTGAAAAGAGGAGGCATGGAGAAGTTCAGGGAAATCTAAAACAAATAAAAGAACAAATAGAAGATCATAAAAAACGAATAGAGAAGTTAGAGGAGTATACAAAGACATGCATGGATTGCTTGAAAGAGAAAAAACAGCAAGAGGAAACCCTAGTGGATGAAATTGAAAAAACAAAATCAAGAATGTCTGAATTTAATGAAGAATTGAATCTTATTAGAAGTGAATTGCAGAATGCTGGGATTGATACCCATGAGGGAAAACGTCAGCAAAAGAGAGCAGAGGTTCTGGAACACCTTAAAAGACTGTACCCAGATTCTGTGTTTGGAAGACTATTTGACCTGTGTCATCCTATTCATAAGAAATACCAGCTGGCTGTTACTAAGGTTTTTGGCCGGTTCATCACTGCCATTGTTGTAGCCTCTGAAAAGGTAGCAAAAGATTGTATTCGATTTCTGAAGGAGGAAAGAGCTGAACCTGAGACATTCCTCGCTCTAGATTACCTTGATATCAAGCCAATCAATGAAAGACTAAGGGAGCTTAAAGGCTGTAAAATGGTGATTGATGTCATAAAGACTCAGTTTCCTCAGCTGAAGAAAGTGATTCAGTTTGTGTGTGGAAATGGTCTTGTTTGTGAGACTATGGAAGAAGCAAGGCATATTGCACTCAGTGGACCTGAAAGACAGAAAACAGTAGCTCTTGATGGAACATTATTTTTAAAATCTGGAGTGATCTCTGGAGGGTCAAGTGACTTAAAATACAAGGCTAGATGCTGGGATGAGAAAGAGTTAAAGAATCTAAGAGACAGACGAAGCCAGAAAATCCAAGAGCTAAAGGGTTTAATGAAGACACTCCGCAAAGAAACAGATTTGAAACAAATACAGACCCTGATACAGGGAACTCAAACACGACTCAAATATTCACAAAATGAACTAGAGATGATTAAGAAGAAGCACCTTGTTGCTTTTTACCAGGAACAATCTCAGTTACAAAGTGAACTACTAAATATTGAGTCTCAATGTATTATGTTGAGTGAAGGAATCAAGGAACGACAACGAAGAATTAAAGAATTTCAAGAAAAGATAGATAAGGTAGAAGACGATATCTTCCAACACTTCTGTGAAGAAATTGGCGTGGAAAATATTCGTGAATTTGAGAACAAACATGTTAAACGGCAACAAGAAATTGATCAAAAAAGATTAGAATTTGAAAAACAAAAAACTCGGCTTAATGTTCAACTTGAGTATAGTCGCAGTCACCTTAAGAAGAAACTGAATAAGATCAACACATTAAAAGAAACTATCCAGAAAGGTAGTGAAGATATTGATCACCTAAAGAAGGCTGAAGAAAACTGTCTGCAGACAGTGAATGAACTCATGGCAAAGCAGCAGCAACTTAAGGACATACGTGTCACTCAGAACTCCAGTGCCGAGAAAGTTCAAACTCAAATTGAAGAGGAACGGAAGAAGTTTCTGGCTGTTGATAGGGAAGTGGGGAAATTGCAAAAAGAAGTTGTAAGTATTCAAACTTCTCTGGAACAGAAACGATTAGAGAAGCATAACTTGCTGCTTGATTGCAAAGTGCAAGACATTGAGATAATCCTTTTGTCGGGGTCACTGGATGACATCATTGAAGTGGAGATGGGAACTGAAGCAGAAAGTACCCAGGCAACAATTGATATCTATGAAAAAGAAGAAGCCTTTGAAATAGACTACAGCTCTCTAAAAGAGGATTTGAAGGCTCTACAGTCTGATCAAGAAATCGAGGCCCACCTTAGGCTCTTATTGCAGCAAGTAGCATCCCAGGAAGATATCTTACTGAAAACAGCAGCCCCAAACCTACGAGCACTGGAGAACTTAAAGACTGTCAGAGACAAGTTTCAAGAGTCCACAGATGCTTTTGAGGCCAGCAGAAAGGAAGCCAGACTGTGTAGGCAAGAGTTCGAGCAAGTGAAAAAAAGGAGATACGATCTTTTCACCCAGTGTTTTGAGCATGTCTCAATCTCAATTGATCAAATCTACAAGAAGCTCTGCAGAAACAACAGCGCCCAAGTGTCAAGTTACATCAAAGAGCAAACTCAAGACCAGTTTCAGATGATAGTCATCTCCCTAAAAGAAGAGTTCTATTCCAGAGCCGACGCGCTGATCGGCATCTATCCTGAGTACGATGACTGCATGTTCAGCCGAGTTTTGACCCTAGATCTTTCTCAGTATCCAGACACTGAAGGCCAAGAAAGCAGCAAGAGACACGGAGAGTCCCGCTAG
Amino sequence
MAHLELLLVENFKSWRGRQVIGPFRRFTCIIGPNGSGKSNVMDALSFVMGEKIANLRVKNIQELIHGAHIGKPISSSASVKIIYVEESGEEKTFARIIRGGCSEFRFNDNLVSRSVYIAELEKIGIIVKAQNCLVFQGTVESISVKKPKERTQFFEEISTSGELIGEYEEKKRKLQKAEEDAQFNFNKKKNIAAERRQAKLEKEEAERYQSLLEELKMNKIQLQLFQLYHNEKKIHLLNTKLEHVNRDLSVKRESLSHHENIVKARKKEHGMLTRQLQQTEKELKSVETLLNQKRPQYIKAKENTSHHLKKLDVAKKSIKDSEKQCSKQEDDIKALETELADLDAAWRSFEKQIEEEILHKKRDIELEASQLDRYKELKEQVRKKVATMTQQLEKLQWEQKTDEERLAFEKRRHGEVQGNLKQIKEQIEDHKKRIEKLEEYTKTCMDCLKEKKQQEETLVDEIEKTKSRMSEFNEELNLIRSELQNAGIDTHEGKRQQKRAEVLEHLKRLYPDSVFGRLFDLCHPIHKKYQLAVTKVFGRFITAIVVASEKVAKDCIRFLKEERAEPETFLALDYLDIKPINERLRELKGCKMVIDVIKTQFPQLKKVIQFVCGNGLVCETMEEARHIALSGPERQKTVALDGTLFLKSGVISGGSSDLKYKARCWDEKELKNLRDRRSQKIQELKGLMKTLRKETDLKQIQTLIQGTQTRLKYSQNELEMIKKKHLVAFYQEQSQLQSELLNIESQCIMLSEGIKERQRRIKEFQEKIDKVEDDIFQHFCEEIGVENIREFENKHVKRQQEIDQKRLEFEKQKTRLNVQLEYSRSHLKKKLNKINTLKETIQKGSEDIDHLKKAEENCLQTVNELMAKQQQLKDIRVTQNSSAEKVQTQIEEERKKFLAVDREVGKLQKEVVSIQTSLEQKRLEKHNLLLDCKVQDIEIILLSGSLDDIIEVEMGTEAESTQATIDIYEKEEAFEIDYSSLKEDLKALQSDQEIEAHLRLLLQQVASQEDILLKTAAPNLRALENLKTVRDKFQESTDAFEASRKEARLCRQEFEQVKKRRYDLFTQCFEHVSISIDQIYKKLCRNNSAQVSSYIKEQTQDQFQMIVISLKEEFYSRADALIGIYPEYDDCMFSRVLTLDLSQYPDTEGQESSKRHGESR*