ENST00000381513.8 SMARCD1

Information
Transcript ID
ENST00000381513.8
Genome
hg19
Position
chr12:50,478,983-50,494,425
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
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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 50,478,983 50,479,329
2 50,479,944 50,480,131
3 50,480,404 50,480,446
4 50,480,539 50,480,661
5 50,481,146 50,481,268
6 50,482,304 50,482,420
7 50,483,667 50,483,768
8 50,484,024 50,484,185
9 50,484,276 50,484,373
10 50,488,220 50,488,355
11 50,492,497 50,492,598
12 50,492,730 50,494,425
CDS
Exon number Type Start Stop
1 CDS 50,479,153 50,479,329
2 CDS 50,479,944 50,480,131
3 CDS 50,480,404 50,480,446
4 CDS 50,480,539 50,480,661
5 CDS 50,481,146 50,481,268
6 CDS 50,482,304 50,482,420
7 CDS 50,483,667 50,483,768
8 CDS 50,484,024 50,484,185
9 CDS 50,484,276 50,484,373
10 CDS 50,488,220 50,488,355
11 CDS 50,492,497 50,492,598
12 CDS 50,492,730 50,492,783
Other genome
Genome Chromosome Start End Links
hg38 chr12 50,085,200 50,100,642 Link
CDS sequence
ATGGCGGCCCGGGCGGGTTTCCAGTCTGTGGCTCCAAGCGGCGGCGCCGGAGCCTCAGGAGGGGCGGGCGCGGCTGCTGCCTTGGGCCCGGGCGGAACTCCGGGGCCTCCTGTGCGAATGGGCCCGGCTCCGGGTCAAGGGCTGTACCGCTCCCCGATGCCCGGAGCGGCCTATCCGAGACCAGGTATGTTGCCAGGCAGCCGAATGACACCTCAGGGACCTTCCATGGGACCCCCTGGCTATGGGGGGAACCCTTCAGTCCGACCTGGCCTGGCCCAGTCAGGGATGGATCAGTCCCGCAAGAGACCTGCCCCTCAGCAGATCCAGCAGGTCCAGCAGCAGGCGGTCCAAAATCGAAACCACAATGCAAAGAAAAAGAAGATGGCTGACAAAATTCTACCTCAAAGGATTCGTGAACTGGTACCAGAATCCCAGGCCTATATGGATCTCTTGGCTTTTGAAAGGAAACTGGACCAGACTATCATGAGGAAACGGCTAGATATCCAAGAGGCCTTGAAACGTCCCATCAAGCAAAAACGGAAGCTGCGAATTTTCATTTCTAACACTTTCAATCCGGCTAAGTCAGATGCCGAGGATGGGGAAGGGACGGTGGCTTCCTGGGAGCTTCGGGTAGAAGGACGGCTCCTGGAGGATTCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCATCTGGTAGAATGGCACAGGACCGCCACTACCCAGGAGACCGATGGCTTTCAGGTGAAGCGGCCGGGAGACGTGAATGTACGGTGTACTGTCCTACTGATGCTGGATTACCAGCCTCCCCAGTTTAAATTAGACCCCCGCCTAGCTCGACTCCTGGGCATCCATACCCAGACTCGTCCAGTGATCATCCAAGCACTGTGGCAATATATTAAGACACATAAGCTCCAGGACCCTCACGAGCGGGAGTTTGTCATCTGTGACAAGTACCTGCAGCAGATCTTTGAGTCTCAACGTATGAAGTTTTCAGAGATCCCTCAGCGGCTCCATGCCTTGCTTATGCCACCAGAACCTATCATCATTAATCATGTCATCAGTGTTGACCCGAATGATCAGAAAAAGACAGCTTGTTATGACATTGATGTTGAAGTGGATGACACCTTGAAGACCCAGATGAATTCTTTTCTGCTGTCCACTGCCAGCCAACAGGAGATTGCTACTCTAGACAACAAGACAATGACTGATGTGGTGGGTAACCCAGAGGAGGAGCGCCGAGCTGAGTTCTACTTCCAGCCCTGGGCTCAGGAGGCTGTGTGCCGATACTTCTACTCCAAGGTGCAGCAGAGACGACAAGAATTAGAGCAAGCCCTGGGAATCCGGAATACATAG
Amino sequence
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPRPGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRNHNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKRKLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPRLARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQRLHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATLDNKTMTDVVGNPEEERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT*