Assay Details
Target Gene Details
Entrez Gene ID: | 26150 |
Gene Name: | RIB43A domain with coiled-coils 2 |
Gene Aliases: |
C22orf11, TRIB |
Location: |
Chr.22:45413691-45432422 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RIBC2 | NM_015653.4 | NP_056468.3 | ||
XM_017028766.1 | XP_016884255.1 | |||
AK098586.1 | ||||
AK225722.1 | ||||
AL442116.1 | CAC09526.1 | |||
BC003024.1 | AAH03024.1 | |||
BC009904.2 | AAH09904.1 |
Target Gene Details
Entrez Gene ID: | 27127 |
Gene Name: | structural maintenance of chromosomes 1B |
Gene Aliases: |
SMC1BETA, SMC1L2 |
Location: |
Chr.22:45344063-45413671 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMC1B | XM_011530145.2 | XP_011528447.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv515690 | Chr.22:45362878 - 45415482 on Build GRCh38 | Gain+Loss | RIBC2 SMC1B |
nsv1066204 | Chr.22:45254728 - 45870451 on Build GRCh38 | Gain | MIR4762 LINC01589 FAM118A FBLN1 ATXN10 RIBC2 LOC105373065 SMC1B UPK3A |
nsv3651 | Chr.22:45403708 - 45435552 on Build GRCh38 | Insertion | RIBC2 SMC1B |
nsv834221 | Chr.22:45383909 - 45578311 on Build GRCh38 | Loss | FBLN1 RIBC2 SMC1B |
esv3647931 | Chr.22:45382351 - 45517601 on Build GRCh38 | Gain | FBLN1 RIBC2 SMC1B |
esv34218 | Chr.22:45254944 - 45515710 on Build GRCh38 | Gain | FAM118A FBLN1 RIBC2 LOC105373065 SMC1B UPK3A |
nsv9921 | Chr.22:45247876 - 45514132 on Build GRCh38 | Gain+Loss | FAM118A FBLN1 RIBC2 LOC105373065 SMC1B UPK3A |
esv2758843 | Chr.22:45178343 - 45529286 on Build GRCh38 | Gain | FAM118A KIAA0930 FBLN1 NUP50 RIBC2 LOC105373065 MIR1249 SMC1B UPK3A |
nsv471210 | Chr.22:45315973 - 45415482 on Build GRCh38 | Gain | FAM118A RIBC2 SMC1B |
esv3647921 | Chr.22:45247581 - 45517162 on Build GRCh38 | Gain | FAM118A FBLN1 RIBC2 LOC105373065 SMC1B UPK3A |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |