ENST00000357450.9 SMC1B

Information
Transcript ID
ENST00000357450.9
Genome
hg38
Position
chr22:45,344,063-45,413,599
Strand
-
CDS length
3,708
Amino acid length
1,236
Gene symbol
SMC1B
Gene type
protein-coding
Gene description
structural maintenance of chromosomes 1B
Gene Entrez Gene ID
27127
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
25 45,344,063 45,344,657
24 45,345,459 45,345,569
23 45,349,728 45,349,797
22 45,352,451 45,352,602
21 45,353,978 45,354,132
20 45,354,959 45,355,115
19 45,358,697 45,358,795
18 45,359,805 45,359,958
17 45,361,839 45,361,984
16 45,362,885 45,363,026
15 45,369,954 45,370,060
14 45,371,471 45,371,587
13 45,372,155 45,372,292
12 45,383,467 45,383,613
11 45,386,867 45,387,046
10 45,389,712 45,389,897
9 45,393,634 45,393,841
8 45,394,685 45,394,767
7 45,396,346 45,396,486
6 45,399,095 45,399,353
5 45,402,333 45,402,571
4 45,406,460 45,406,663
3 45,406,753 45,406,865
2 45,408,710 45,408,898
1 45,413,459 45,413,599
CDS
Exon number Type Start Stop
25 CDS 45,344,556 45,344,657
24 CDS 45,345,459 45,345,569
23 CDS 45,349,728 45,349,797
22 CDS 45,352,451 45,352,602
21 CDS 45,353,978 45,354,132
20 CDS 45,354,959 45,355,115
19 CDS 45,358,697 45,358,795
18 CDS 45,359,805 45,359,958
17 CDS 45,361,839 45,361,984
16 CDS 45,362,885 45,363,026
15 CDS 45,369,954 45,370,060
14 CDS 45,371,471 45,371,587
13 CDS 45,372,155 45,372,292
12 CDS 45,383,467 45,383,613
11 CDS 45,386,867 45,387,046
10 CDS 45,389,712 45,389,897
9 CDS 45,393,634 45,393,841
8 CDS 45,394,685 45,394,767
7 CDS 45,396,346 45,396,486
6 CDS 45,399,095 45,399,353
5 CDS 45,402,333 45,402,571
4 CDS 45,406,460 45,406,663
3 CDS 45,406,753 45,406,865
2 CDS 45,408,710 45,408,898
1 CDS 45,413,459 45,413,567
Other genome
Genome Chromosome Start End Links
hg19 chr22 45,739,944 45,809,480 Link
CDS sequence
ATGGCCCACCTGGAGCTGCTGCTTGTGGAAAATTTCAAGTCGTGGCGGGGCCGCCAGGTCATTGGCCCCTTCCGGAGGTTCACCTGCATCATCGGCCCCAACGGCTCTGGAAAATCTAATGTAATGGATGCACTTAGTTTTGTAATGGGAGAGAAAATAGCTAATTTAAGAGTGAAAAATATTCAAGAACTCATTCATGGAGCACATATTGGAAAACCTATTTCTTCTTCTGCAAGTGTAAAAATTATATATGTGGAGGAAAGTGGCGAAGAGAAAACATTTGCAAGGATTATCCGAGGGGGATGCTCAGAATTTCGCTTTAATGATAATCTTGTGAGTCGTTCTGTTTACATTGCAGAGTTGGAAAAGATAGGCATAATAGTCAAAGCACAAAATTGTTTGGTTTTTCAGGGAACTGTAGAGTCAATTTCAGTGAAGAAACCCAAAGAAAGGACCCAGTTTTTTGAGGAAATCAGCACTTCAGGAGAGCTTATAGGAGAATATGAAGAAAAGAAAAGAAAGTTACAAAAAGCCGAAGAGGATGCACAGTTTAACTTTAATAAGAAAAAAAATATAGCGGCAGAGCGCAGACAAGCAAAATTAGAGAAGGAAGAGGCAGAACGTTACCAGAGTCTCCTTGAAGAACTGAAAATGAACAAGATACAACTGCAGCTTTTTCAACTATACCATAATGAGAAAAAGATTCATCTCCTGAACACCAAGTTAGAGCATGTGAATAGGGATTTGAGTGTCAAAAGAGAGTCTTTGTCTCATCATGAAAACATAGTTAAAGCCAGGAAAAAGGAACATGGAATGCTAACTAGACAACTACAACAAACAGAAAAAGAATTAAAATCGGTTGAAACCCTTTTAAATCAGAAGAGGCCTCAGTACATTAAAGCCAAAGAAAACACTTCTCACCACCTTAAGAAATTAGATGTGGCTAAGAAATCAATAAAGGACAGCGAAAAACAATGTTCTAAACAGGAAGATGATATAAAAGCCCTGGAGACAGAGCTGGCTGATTTAGATGCTGCATGGAGAAGTTTTGAAAAGCAGATTGAGGAAGAAATTTTACATAAAAAGCGAGACATTGAACTGGAAGCCAGTCAGCTGGATCGTTATAAAGAACTTAAGGAACAAGTAAGAAAGAAAGTAGCTACAATGACTCAACAACTGGAAAAACTGCAGTGGGAACAGAAGACAGATGAAGAAAGACTGGCATTTGAAAAGAGGAGGCATGGAGAAGTTCAGGGAAATCTAAAACAAATAAAAGAACAAATAGAAGATCATAAAAAACGAATAGAGAAGTTAGAGGAGTATACAAAGACATGCATGGATTGCTTGAAAGAGAAAAAACAGCAAGAGGAAACCCTAGTGGATGAAATTGAAAAAACAAAATCAAGAATGTCTGAAGTTAATGAAGAATTGAATCTTATTAGAAGTGAATTGCAGAATGCTGGGATTGATACCCATGAGGGAAAACGTCAGCAAAAGAGAGCAGAGGTTCTGGAACACCTTAAAAGACTGTACCCAGATTCTGTGTTTGGAAGACTATTTGACCTGTGTCATCCTATTCATAAGAAATACCAGCTGGCTGTTACTAAGGTTTTTGGCCGGTTCATCACTGCCATTGTTGTAGCCTCTGAAAAGGTAGCAAAAGATTGTATTCGATTTCTGAAGGAGGAAAGAGCTGAACCTGAGACATTCCTCGCTCTAGATTACCTTGATATCAAGCCAATCAATGAAAGACTAAGGGAGCTTAAAGGCTGTAAAATGGTGATTGATGTCATAAAGACTCAGTTTCCTCAGCTGAAGAAAGTGATTCAGTTTGTGTGTGGAAATGGTCTTGTTTGTGAGACTATGGAAGAAGCAAGGCATATTGCACTCAGTGGACCTGAAAGACAGAAAACAGTAGCTCTTGATGGAACATTATTTTTAAAATCTGGAGTGATCTCTGGAGGGTCAAGTGACTTAAAATACAAGGCTAGATGCTGGGATGAGAAAGAGTTAAAGAATCTAAGAGACAGACGAAGCCAGAAAATCCAAGAGCTAAAGGGTTTAATGAAGACACTCCGCAAAGAAACAGATTTGAAACAAATACAGACCCTGATACAGGGAACTCAAACACGACTCAAATATTCACAAAATGAACTAGAGATGATTAAGAAGAAGCACCTTGTTGCTTTTTACCAGGAACAATCTCAGTTACAAAGTGAACTACTAAATATTGAGTCTCAATGTATTATGTTGAGTGAAGGAATCAAGGAACGACAACGAAGAATTAAAGAATTTCAAGAAAAGATAGATAAGGTAGAAGACGATATCTTCCAACACTTCTGTGAAGAAATTGGCGTGGAAAATATTCGTGAATTTGAGAACAAACATGTTAAACGGCAACAAGAAATTGATCAAAAAAGATTAGAATTTGAAAAACAAAAAACTCGGCTTAATGTTCAACTTGAGTATAGTCGCAGTCACCTTAAGAAGAAACTGAATAAGATCAACACATTAAAAGAAACTATCCAGAAAGGTAGTGAAGATATTGATCACCTAAAGAAGGCTGAAGAAAACTGTCTGCAGACAGTGAATGAACTCATGGCAAAGCAGCAGCAACTTAAGGACATACGTGTCACTCAGAACTCCAGTGCCGAGAAAGTTCAAACTCAAATTGAAGAGGAACGGAAGAAGTTTCTGGCTGTTGATAGGGAAGTGGGGAAATTGCAAAAAGAAGTTGTAAGTATTCAAACTTCTCTGGAACAGAAACGATTAGAGAAGCATAACTTGCTGCTTGATTGCAAAGTGCAAGACATTGAGATAATCCTTTTGTCGGGGTCACTGGATGACATCATTGAAGTGGAGATGGGAACTGAAGCAGAAAGTACCCAGGCAACAATTGATATCTATGAAAAAGAAGAAGCCTTTGAAATAGACTACAGCTCTCTAAAAGAGGATTTGAAGGCTCTACAGTCTGATCAAGAAATCGAGGCCCACCTTAGGCTCTTATTGCAGCAAGTAGCATCCCAGGAAGATATCTTACTGAAAACAGCAGCCCCAAACCTACGAGCACTGGAGAACTTAAAGACTGTCAGAGACAAGTTTCAAGAGTCCACAGATGCTTTTGAGGCCAGCAGAAAGGAAGCCAGACTGTGTAGGCAAGAGTTCGAGCAAGTGAAAAAAAGGAGATACGATCTTTTCACCCAGTGTTTTGAGCATGTCTCAATCTCAATTGATCAAATCTACAAGAAGCTCTGCAGAAACAACAGCGCCCAAGCATTTCTTAGCCCAGAGAACCCTGAAGAACCTTACTTGGAGGGAATTAGCTATAACTGTGTGGCCCCAGGCAAACGGTTTATGCCAATGGACAATTTGTCAGGGGGAGAAAAGTGTGTGGCAGCCTTGGCTCTCCTGTTTGCTGTGCACAGTTTTCGTCCTGCCCCATTCTTTGTTTTAGATGAAGTGGATGCAGCCCTAGACAATACTAACATAGGCAAAGTGTCAAGTTACATCAAAGAGCAAACTCAAGACCAGTTTCAGATGATAGTCATCTCCCTAAAAGAAGAGTTCTATTCCAGAGCCGACGCGCTGATCGGCATCTATCCTGAGTACGATGACTGCATGTTCAGCCGAGTTTTGACCCTAGATCTTTCTCAGTATCCAGACACTGAAGGCCAAGAAAGCAGCAAGAGACACGGAGAGTCCCGCTAG
Amino sequence
MAHLELLLVENFKSWRGRQVIGPFRRFTCIIGPNGSGKSNVMDALSFVMGEKIANLRVKNIQELIHGAHIGKPISSSASVKIIYVEESGEEKTFARIIRGGCSEFRFNDNLVSRSVYIAELEKIGIIVKAQNCLVFQGTVESISVKKPKERTQFFEEISTSGELIGEYEEKKRKLQKAEEDAQFNFNKKKNIAAERRQAKLEKEEAERYQSLLEELKMNKIQLQLFQLYHNEKKIHLLNTKLEHVNRDLSVKRESLSHHENIVKARKKEHGMLTRQLQQTEKELKSVETLLNQKRPQYIKAKENTSHHLKKLDVAKKSIKDSEKQCSKQEDDIKALETELADLDAAWRSFEKQIEEEILHKKRDIELEASQLDRYKELKEQVRKKVATMTQQLEKLQWEQKTDEERLAFEKRRHGEVQGNLKQIKEQIEDHKKRIEKLEEYTKTCMDCLKEKKQQEETLVDEIEKTKSRMSEVNEELNLIRSELQNAGIDTHEGKRQQKRAEVLEHLKRLYPDSVFGRLFDLCHPIHKKYQLAVTKVFGRFITAIVVASEKVAKDCIRFLKEERAEPETFLALDYLDIKPINERLRELKGCKMVIDVIKTQFPQLKKVIQFVCGNGLVCETMEEARHIALSGPERQKTVALDGTLFLKSGVISGGSSDLKYKARCWDEKELKNLRDRRSQKIQELKGLMKTLRKETDLKQIQTLIQGTQTRLKYSQNELEMIKKKHLVAFYQEQSQLQSELLNIESQCIMLSEGIKERQRRIKEFQEKIDKVEDDIFQHFCEEIGVENIREFENKHVKRQQEIDQKRLEFEKQKTRLNVQLEYSRSHLKKKLNKINTLKETIQKGSEDIDHLKKAEENCLQTVNELMAKQQQLKDIRVTQNSSAEKVQTQIEEERKKFLAVDREVGKLQKEVVSIQTSLEQKRLEKHNLLLDCKVQDIEIILLSGSLDDIIEVEMGTEAESTQATIDIYEKEEAFEIDYSSLKEDLKALQSDQEIEAHLRLLLQQVASQEDILLKTAAPNLRALENLKTVRDKFQESTDAFEASRKEARLCRQEFEQVKKRRYDLFTQCFEHVSISIDQIYKKLCRNNSAQAFLSPENPEEPYLEGISYNCVAPGKRFMPMDNLSGGEKCVAALALLFAVHSFRPAPFFVLDEVDAALDNTNIGKVSSYIKEQTQDQFQMIVISLKEEFYSRADALIGIYPEYDDCMFSRVLTLDLSQYPDTEGQESSKRHGESR*