ENST00000548573.5 SMARCD1

Information
Transcript ID
ENST00000548573.5
Genome
hg38
Position
chr12:50,088,235-50,100,149
Strand
+
CDS length
942
Amino acid length
314
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
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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 50,088,235 50,088,290
2 50,088,525 50,088,637
3 50,089,884 50,089,985
4 50,090,241 50,090,402
5 50,090,493 50,090,590
6 50,094,437 50,094,572
7 50,096,850 50,096,972
8 50,098,714 50,098,815
9 50,098,947 50,100,149
CDS
Exon number Type Start Stop
1 CDS 50,088,239 50,088,290
2 CDS 50,088,525 50,088,637
3 CDS 50,089,884 50,089,985
4 CDS 50,090,241 50,090,402
5 CDS 50,090,493 50,090,590
6 CDS 50,094,437 50,094,572
7 CDS 50,096,850 50,096,972
8 CDS 50,098,714 50,098,815
9 CDS 50,098,947 50,099,000
Other genome
Genome Chromosome Start End Links
hg19 chr12 50,482,018 50,493,932 Link
CDS sequence
ATGTGCAATGGTTTGCTTAACTTGCCTCATTTCCCTTGGGCAAATGAGATGGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCATCTGGTAGAATGGCACAGGACCGCCACTACCCAGGAGACCGATGGCTTTCAGGTGAAGCGGCCGGGAGACGTGAATGTACGGTGTACTGTCCTACTGATGCTGGATTACCAGCCTCCCCAGTTTAAATTAGACCCCCGCCTAGCTCGACTCCTGGGCATCCATACCCAGACTCGTCCAGTGATCATCCAAGCACTGTGGCAATATATTAAGACACATAAGCTCCAGGACCCTCACGAGCGGGAGTTTGTCATCTGTGACAAGTACCTGCAGCAGATCTTTGAGTCTCAACGTATGAAGTTTTCAGAGATCCCTCAGCGGCTCCATGCCTTGCTTATGCCACCAGAACCTATCATCATTAATCATGTCATCAGTGTTGACCCGAATGATCAGAAAAAGACAGCTTGTTATGACATTGATGTTGAAGTGGATGACACCTTGAAGACCCAGATGAATTCTTTTCTGCTGTCCACTGCCAGCCAACAGGAGATTGCTACTCTAGACAACAAGATCCATGAGACAATAGAAACCATCAACCAGCTGAAGACTCAGCGGGAGTTCATGCTGAGCTTTGCCAGAGACCCTCAGGGTTTCATCAATGACTGGCTTCAGTCCCAGTGCAGGGACCTCAAGACAATGACTGATGTGGTGGGTAACCCAGAGGAGGAGCGCCGAGCTGAGTTCTACTTCCAGCCCTGGGCTCAGGAGGCTGTGTGCCGATACTTCTACTCCAAGGTGCAGCAGAGACGACAAGAATTAGAGCAAGCCCTGGGAATCCGGAATACATAG
Amino sequence
MCNGLLNLPHFPWANEMALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPRLARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQRLHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATLDNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT*