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

Chr.22:23787079 on build GRCh38
Cytoband
22q11.23
Assay ID Hs02354103_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SMARCB1 NM_001007468.2 1 149 NP_001007469.1
NM_001317946.1 1 149 NP_001304875.1
NM_003073.4 1 149 NP_003064.2
XM_011530345.2 1 118 XP_011528647.1
AJ011737.1 1 57 CAA09758.1
AJ011738.1 1 57 CAA09759.1
AK021419.1 1 82
AK024025.1 1 117 BAB14784.1
AK299411.1 1 79
AK303620.1 1 100
AL389878.1
AU143041.1 1 117
BC117114.1
BC143667.1
BG705851.1 1 122
CR456581.1 CAG30467.1
HY013730.1 1 151

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Function(s) Process(es)


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