ENST00000394963.9 SMARCD1

Information
Transcript ID
ENST00000394963.9
Genome
hg19
Position
chr12:50,479,125-50,494,490
Strand
+
CDS length
1,548
Amino acid length
516
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

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Filtering :
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 :
Search word :
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
1 50,479,125 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 50,490,633 50,490,755
12 50,492,497 50,492,598
13 50,492,730 50,494,490
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 50,490,633 50,490,755
12 CDS 50,492,497 50,492,598
13 CDS 50,492,730 50,492,783
Other genome
Genome Chromosome Start End Links
hg38 chr12 50,085,342 50,100,707 Link
CDS sequence
ATGGCGGCCCGGGCGGGTTTCCAGTCTGTGGCTCCAAGCGGCGGCGCCGGAGCCTCAGGAGGGGCGGGCGCGGCTGCTGCCTTGGGCCCGGGCGGAACTCCGGGGCCTCCTGTGCGAATGGGCCCGGCTCCGGGTCAAGGGCTGTACCGCTCCCCGATGCCCGGAGCGGCCTATCCGAGACCAGGTATGTTGCCAGGCAGCCGAATGACACCTCAGGGACCTTCCATGGGACCCCCTGGCTATGGGGGGAACCCTTCAGTCCGACCTGGCCTGGCCCAGTCAGGGATGGATCAGTCCCGCAAGAGACCTGCCCCTCAGCAGATCCAGCAGGTCCAGCAGCAGGCGGTCCAAAATCGAAACCACAATGCAAAGAAAAAGAAGATGGCTGACAAAATTCTACCTCAAAGGATTCGTGAACTGGTACCAGAATCCCAGGCCTATATGGATCTCTTGGCTTTTGAAAGGAAACTGGACCAGACTATCATGAGGAAACGGCTAGATATCCAAGAGGCCTTGAAACGTCCCATCAAGCAAAAACGGAAGCTGCGAATTTTCATTTCTAACACTTTCAATCCGGCTAAGTCAGATGCCGAGGATGGGGAAGGGACGGTGGCTTCCTGGGAGCTTCGGGTAGAAGGACGGCTCCTGGAGGATTCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCATCTGGTAGAATGGCACAGGACCGCCACTACCCAGGAGACCGATGGCTTTCAGGTGAAGCGGCCGGGAGACGTGAATGTACGGTGTACTGTCCTACTGATGCTGGATTACCAGCCTCCCCAGTTTAAATTAGACCCCCGCCTAGCTCGACTCCTGGGCATCCATACCCAGACTCGTCCAGTGATCATCCAAGCACTGTGGCAATATATTAAGACACATAAGCTCCAGGACCCTCACGAGCGGGAGTTTGTCATCTGTGACAAGTACCTGCAGCAGATCTTTGAGTCTCAACGTATGAAGTTTTCAGAGATCCCTCAGCGGCTCCATGCCTTGCTTATGCCACCAGAACCTATCATCATTAATCATGTCATCAGTGTTGACCCGAATGATCAGAAAAAGACAGCTTGTTATGACATTGATGTTGAAGTGGATGACACCTTGAAGACCCAGATGAATTCTTTTCTGCTGTCCACTGCCAGCCAACAGGAGATTGCTACTCTAGACAACAAGATCCATGAGACAATAGAAACCATCAACCAGCTGAAGACTCAGCGGGAGTTCATGCTGAGCTTTGCCAGAGACCCTCAGGGTTTCATCAATGACTGGCTTCAGTCCCAGTGCAGGGACCTCAAGACAATGACTGATGTGGTGGGTAACCCAGAGGAGGAGCGCCGAGCTGAGTTCTACTTCCAGCCCTGGGCTCAGGAGGCTGTGTGCCGATACTTCTACTCCAAGGTGCAGCAGAGACGACAAGAATTAGAGCAAGCCCTGGGAATCCGGAATACATAG
Amino sequence
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPRPGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRNHNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKRKLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPRLARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQRLHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATLDNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT*