ENST00000389313.9 SMTNL2

Information
Transcript ID
ENST00000389313.9
Genome
hg19
Position
chr17:4,487,824-4,511,614
Strand
+
CDS length
1,386
Amino acid length
462
Gene symbol
SMTNL2
Gene type
protein-coding
Gene description
smoothelin like 2
Gene Entrez Gene ID
342527
Variants

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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
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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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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 4,487,824 4,488,299
2 4,495,656 4,495,743
3 4,496,224 4,496,466
4 4,497,117 4,497,192
5 4,498,440 4,498,622
6 4,500,155 4,500,272
7 4,500,467 4,500,618
8 4,510,656 4,511,614
CDS
Exon number Type Start Stop
1 CDS 4,487,901 4,488,299
2 CDS 4,495,656 4,495,743
3 CDS 4,496,224 4,496,466
4 CDS 4,497,117 4,497,192
5 CDS 4,498,440 4,498,622
6 CDS 4,500,155 4,500,272
7 CDS 4,500,467 4,500,618
8 CDS 4,510,656 4,510,782
Other genome
Genome Chromosome Start End Links
hg38 chr17 4,584,529 4,608,319 Link
CDS sequence
ATGGAGCCGGCCCCCGACGCCCAGGAGGCGCGCACTGTGCGCGAGGCGCTGGGCCGCTACGAGGCGGCGCTGGAGGGTGCGGTGCGCGCGCTGCACGAGGACATGCGGGGGCTGCAGCGCGGCGTGGAGCGGCGAGTGGCAGAGGCGATGCGCCTGGCCGGCCCCCTGGCGCGCACGGTGGCCGACCTGCAGCGGGACAACCAGCGGCTGCAGGCGCAGCTCGAGCGCCTGACGCGCCAGGTGGAGGCGCTGGGCTTGGCCAGCGGGATGTCCCCGGTGCCCGGCACTCCCGGCACGCCCAGCCCCCCGCCCGCGCCCGGGGTTCCCGACCGCGCGCCCCGCCTGGGCAGCGCACGCTTCGCCAGCCACGCCACCTTCTCGCTGTCCGGCCGCGGCCAGAGTTTGGATCACGATGAGGCCAGTGAGTCGGAGATGAGAAAGACCTCAAACTCCTGCATCATGGAAAATGGGCACCAGCCGGGGGCAGGTCCAGGCGATGGACCCCCTGAGATTGCCCAAAACTTCTCAGCACCAGATCCCCCCAGGCCTCGTCCTGTGAGCCTCTCCTTGCGGCTGCCCCACCAGCCAGTCACGGCCATCACCCGAGTCTCTGACAGGTTCTCTGGGGAGACCTCAGCTGCGGCTCTATCACCCATGTCTGCTGCCACCCTGGGGGGCCTCAACCCAAGCCCCAGCGAGGTCATCACGCCCTGGACTCCCAGTCCTAGCGAGAAGAATTCCTCTTTCACGTGGTCTGTGCCAAGCTCTGGCTATGGGGCAGTGACAGCAAGCAAACACAGCAATAGCCCACCGCTGGTGACACCACCCCAGTCGCCCGTGTCCCCGCAGCCGCCAGCCATAACTCAGGTCCATCGGCAGGGGGAGCGTCGCAGGGAGCTGGTGAGGTCGCAGACGCTGCCCCGCACCTCGGAGGCGCAGGCCCGGAAAGCATTGTTTGAGAAGTGGGAGCAGGAAACGGCGGCCGGCAAGGGGAAAGGCGAGGCCCGGGCCAGGCTGAAGCGGTCGCAGAGCTTCGGCGTGGCCAGCGCCAGCAGCATCAAGCAGATCCTGCTCGAGTGGTGCCGCAGCAAGACGCTGGGCTACCAGCACGTGGACCTGCAGAACTTCTCCTCCAGCTGGAGCGACGGCATGGCCTTCTGCGCCCTGGTACACTCCTTCTTCCCCGATGCCTTTGACTACAACTCCCTGAGCCCCACGCAGAGGCAGAAGAACTTCGAGCTGGCTTTCACCATGGCCGAGAATCTGGCCAACTGTGAGCGCCTCATCGAAGTGGAGGACATGATGGTGATGGGCCGCAAGCCGGACCCCATGTGTGTCTTCACCTACGTCCAGTCGCTGTACAACCACCTGCGTCGCTTCGAGTAA
Amino sequence
MEPAPDAQEARTVREALGRYEAALEGAVRALHEDMRGLQRGVERRVAEAMRLAGPLARTVADLQRDNQRLQAQLERLTRQVEALGLASGMSPVPGTPGTPSPPPAPGVPDRAPRLGSARFASHATFSLSGRGQSLDHDEASESEMRKTSNSCIMENGHQPGAGPGDGPPEIAQNFSAPDPPRPRPVSLSLRLPHQPVTAITRVSDRFSGETSAAALSPMSAATLGGLNPSPSEVITPWTPSPSEKNSSFTWSVPSSGYGAVTASKHSNSPPLVTPPQSPVSPQPPAITQVHRQGERRRELVRSQTLPRTSEAQARKALFEKWEQETAAGKGKGEARARLKRSQSFGVASASSIKQILLEWCRSKTLGYQHVDLQNFSSSWSDGMAFCALVHSFFPDAFDYNSLSPTQRQKNFELAFTMAENLANCERLIEVEDMMVMGRKPDPMCVFTYVQSLYNHLRRFE*