ENST00000381513.8 SMARCD1

Information
Transcript ID
ENST00000381513.8
Genome
hg38
Position
chr12:50,085,200-50,100,642
Strand
+
CDS length
1,425
Amino acid length
475
Gene symbol
SMARCD1
Gene type
protein-coding
Gene description
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Gene Entrez Gene ID
6602
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
Search Word
Target data :
MGeND data only
Category :
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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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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 50,085,200 50,085,546
2 50,086,161 50,086,348
3 50,086,621 50,086,663
4 50,086,756 50,086,878
5 50,087,363 50,087,485
6 50,088,521 50,088,637
7 50,089,884 50,089,985
8 50,090,241 50,090,402
9 50,090,493 50,090,590
10 50,094,437 50,094,572
11 50,098,714 50,098,815
12 50,098,947 50,100,642
CDS
Exon number Type Start Stop
1 CDS 50,085,370 50,085,546
2 CDS 50,086,161 50,086,348
3 CDS 50,086,621 50,086,663
4 CDS 50,086,756 50,086,878
5 CDS 50,087,363 50,087,485
6 CDS 50,088,521 50,088,637
7 CDS 50,089,884 50,089,985
8 CDS 50,090,241 50,090,402
9 CDS 50,090,493 50,090,590
10 CDS 50,094,437 50,094,572
11 CDS 50,098,714 50,098,815
12 CDS 50,098,947 50,099,000
Other genome
Genome Chromosome Start End Links
hg19 chr12 50,478,983 50,494,425 Link
CDS sequence
ATGGCGGCCCGGGCGGGTTTCCAGTCTGTGGCTCCAAGCGGCGGCGCCGGAGCCTCAGGAGGGGCGGGCGCGGCTGCTGCCTTGGGCCCGGGCGGAACTCCGGGGCCTCCTGTGCGAATGGGCCCGGCTCCGGGTCAAGGGCTGTACCGCTCCCCGATGCCCGGAGCGGCCTATCCGAGACCAGGTATGTTGCCAGGCAGCCGAATGACACCTCAGGGACCTTCCATGGGACCCCCTGGCTATGGGGGGAACCCTTCAGTCCGACCTGGCCTGGCCCAGTCAGGGATGGATCAGTCCCGCAAGAGACCTGCCCCTCAGCAGATCCAGCAGGTCCAGCAGCAGGCGGTCCAAAATCGAAACCACAATGCAAAGAAAAAGAAGATGGCTGACAAAATTCTACCTCAAAGGATTCGTGAACTGGTACCAGAATCCCAGGCCTATATGGATCTCTTGGCTTTTGAAAGGAAACTGGACCAGACTATCATGAGGAAACGGCTAGATATCCAAGAGGCCTTGAAACGTCCCATCAAGCAAAAACGGAAGCTGCGAATTTTCATTTCTAACACTTTCAATCCGGCTAAGTCAGATGCCGAGGATGGGGAAGGGACGGTGGCTTCCTGGGAGCTTCGGGTAGAAGGACGGCTCCTGGAGGATTCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCATCTGGTAGAATGGCACAGGACCGCCACTACCCAGGAGACCGATGGCTTTCAGGTGAAGCGGCCGGGAGACGTGAATGTACGGTGTACTGTCCTACTGATGCTGGATTACCAGCCTCCCCAGTTTAAATTAGACCCCCGCCTAGCTCGACTCCTGGGCATCCATACCCAGACTCGTCCAGTGATCATCCAAGCACTGTGGCAATATATTAAGACACATAAGCTCCAGGACCCTCACGAGCGGGAGTTTGTCATCTGTGACAAGTACCTGCAGCAGATCTTTGAGTCTCAACGTATGAAGTTTTCAGAGATCCCTCAGCGGCTCCATGCCTTGCTTATGCCACCAGAACCTATCATCATTAATCATGTCATCAGTGTTGACCCGAATGATCAGAAAAAGACAGCTTGTTATGACATTGATGTTGAAGTGGATGACACCTTGAAGACCCAGATGAATTCTTTTCTGCTGTCCACTGCCAGCCAACAGGAGATTGCTACTCTAGACAACAAGACAATGACTGATGTGGTGGGTAACCCAGAGGAGGAGCGCCGAGCTGAGTTCTACTTCCAGCCCTGGGCTCAGGAGGCTGTGTGCCGATACTTCTACTCCAAGGTGCAGCAGAGACGACAAGAATTAGAGCAAGCCCTGGGAATCCGGAATACATAG
Amino sequence
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPRPGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRNHNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKRKLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPRLARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQRLHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATLDNKTMTDVVGNPEEERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT*