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See other SMARCB1 CNV Assays ›
Gene Symbol
SMARCB1
Assay Reference Genome
Location

Chr.22:23788753 on build GRCh38
Cytoband
22q11.23
Assay ID Hs05572706_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 6598

Gene Name:

 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Gene Aliases:

 BAF47, CSS3, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS

Location:

 Chr.22:23786931-23834518 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SMARCB1 NM_001007468.2 NP_001007469.1
NM_001317946.1 NP_001304875.1
NM_003073.4 NP_003064.2
XM_011530345.2 XP_011528647.1
AB017523.1 BAC77068.1
AJ011737.1 CAA09758.1
AJ011738.1 CAA09759.1
AK021419.1
AK024025.1 BAB14784.1
AK299411.1
AK303620.1
AL389878.1
AU143041.1
BC117114.1
BC143667.1
BG705851.1
CR456581.1 CAG30467.1
HY013730.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv8039n54 Chr.22:23323169 - 24601506 on Build GRCh38 Gain CABIN1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GUSBP11 SPECC1L-ADORA2A LOC101929374 LRRC75B PCAT14 GSTTP1 GGT1 GGT5 SMARCB1 MIF GUCD1 SNRPD3 GSTT2 LOC388882 ADORA2A MMP11 CES5AP1 LOC107985555 UPB1 ADORA2A-AS1 GSTT2B CHCHD10 POM121L9P C22orf15 LOC107985559 RGL4 MIF-AS1 SUSD2 ZNF70 SPECC1L SLC2A11 IGLL1 VPREB3 DERL3
esv3893461 Chr.22:23509514 - 23995877 on Build GRCh38 Gain DDT LOC100652871 DDTL GSTT2B CHCHD10 DRICH1 C22orf15 GUSBP11 LOC107985559 RGL4 PCAT14 MIF-AS1 SMARCB1 MIF GSTT2 ZNF70 MMP11 SLC2A11 IGLL1 VPREB3 DERL3
nsv526567 Chr.22:23348138 - 24600663 on Build GRCh38 Gain CABIN1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GUSBP11 SPECC1L-ADORA2A LOC101929374 LRRC75B PCAT14 GSTTP1 GGT1 GGT5 SMARCB1 MIF GUCD1 SNRPD3 GSTT2 LOC388882 ADORA2A MMP11 CES5AP1 LOC107985555 UPB1 ADORA2A-AS1 GSTT2B CHCHD10 POM121L9P C22orf15 LOC107985559 RGL4 MIF-AS1 SUSD2 ZNF70 SPECC1L SLC2A11 IGLL1 VPREB3 DERL3
esv2724041 Chr.22:23315914 - 24669376 on Build GRCh38 Deletion CABIN1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GUSBP11 SPECC1L-ADORA2A LOC101929374 LRRC75B PCAT14 GSTTP1 GGT1 GGT5 SMARCB1 MIF GUCD1 SNRPD3 GSTT2 LOC388882 ADORA2A MMP11 CES5AP1 BCRP3 POM121L10P LOC107985555 UPB1 ADORA2A-AS1 GSTT2B CHCHD10 POM121L9P C22orf15 LOC107985559 RGL4 MIF-AS1 SUSD2 ZNF70 BCR SPECC1L SLC2A11 IGLL1 VPREB3 DERL3
nsv1062411 Chr.22:23407914 - 23922609 on Build GRCh38 Gain CHCHD10 DRICH1 C22orf15 GUSBP11 LOC101929374 RGL4 PCAT14 MIF-AS1 SMARCB1 MIF LOC388882 ZNF70 MMP11 SLC2A11 IGLL1 VPREB3 DERL3
dgv4528n100 Chr.22:23322244 - 24682765 on Build GRCh38 Gain CABIN1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GUSBP11 SPECC1L-ADORA2A LOC101929374 LRRC75B PCAT14 GSTTP1 GGT1 GGT5 SMARCB1 MIF GUCD1 SNRPD3 GSTT2 LOC388882 ADORA2A MMP11 CES5AP1 BCRP3 POM121L10P LOC107985555 UPB1 ADORA2A-AS1 GSTT2B CHCHD10 POM121L9P C22orf15 LOC107985559 RGL4 MIF-AS1 SUSD2 ZNF70 SPECC1L SLC2A11 IGLL1 VPREB3 DERL3
esv3893457 Chr.22:22657560 - 23995877 on Build GRCh38 Gain IGLC1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GUSBP11 LOC101929374 FBXW4P1 PCAT14 IGLV3-19 SMARCB1 MIF GSTT2 LOC388882 MMP11 MIR5571 CES5AP1 MIR650 IGLV3-21 IGLJ3 LOC107985555 IGLV2-5 GSTT2B CHCHD10 C22orf15 IGLV3-25 RAB36 LOC107985559 RGL4 MIF-AS1 GNAZ IGLV4-3 RSPH14 ZNF70 BCR SLC2A11 IGLL1 IGLL5 VPREB3 DERL3
nsv1066891 Chr.22:22611045 - 24001082 on Build GRCh38 Gain IGLC1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GGTLC2 GUSBP11 LOC101929374 FBXW4P1 PCAT14 GSTTP1 IGLV3-19 SMARCB1 MIF GSTT2 LOC388882 MMP11 POM121L1P MIR5571 CES5AP1 MIR650 IGLV3-21 IGLJ3 LOC107985555 IGLV2-5 GSTT2B CHCHD10 C22orf15 IGLV3-25 RAB36 LOC107985559 RGL4 MIF-AS1 GNAZ IGLV4-3 RSPH14 ZNF70 BCR SLC2A11 IGLL1 IGLL5 VPREB3 DERL3
esv3575443 Chr.22:23348201 - 24670505 on Build GRCh38 Gain CABIN1 DDT LOC100652871 DDTL DRICH1 ZDHHC8P1 GUSBP11 SPECC1L-ADORA2A LOC101929374 LRRC75B PCAT14 GSTTP1 GGT1 GGT5 SMARCB1 MIF GUCD1 SNRPD3 GSTT2 LOC388882 ADORA2A MMP11 CES5AP1 BCRP3 POM121L10P LOC107985555 UPB1 ADORA2A-AS1 GSTT2B CHCHD10 POM121L9P C22orf15 LOC107985559 RGL4 MIF-AS1 SUSD2 ZNF70 SPECC1L SLC2A11 IGLL1 VPREB3 DERL3

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Function(s) Process(es)


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