Assay Details
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: | Within Exon 26 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMC1B | NM_001291501.1 | 23 | 3687 | NP_001278430.1 |
NM_148674.4 | 25 | 3909 | NP_683515.4 | |
XM_011530144.2 | 25 | 3770 | XP_011528446.1 | |
AK125736.1 | 12 | 1668 | BAC86266.1 | |
BG194018.1 | 1 | 358 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1066204 | Chr.22:45254728 - 45870451 on Build GRCh38 | Gain | MIR4762 FBLN1 UPK3A LOC105373065 LINC01589 ATXN10 FAM118A SMC1B RIBC2 |
esv34218 | Chr.22:45254944 - 45515710 on Build GRCh38 | Gain | FBLN1 UPK3A LOC105373065 FAM118A SMC1B RIBC2 |
nsv9921 | Chr.22:45247876 - 45514132 on Build GRCh38 | Gain+Loss | FBLN1 UPK3A LOC105373065 FAM118A SMC1B RIBC2 |
esv2758843 | Chr.22:45178343 - 45529286 on Build GRCh38 | Gain | FBLN1 UPK3A LOC105373065 MIR1249 NUP50 FAM118A SMC1B RIBC2 KIAA0930 |
nsv471210 | Chr.22:45315973 - 45415482 on Build GRCh38 | Gain | FAM118A SMC1B RIBC2 |
esv3647921 | Chr.22:45247581 - 45517162 on Build GRCh38 | Gain | FBLN1 UPK3A LOC105373065 FAM118A SMC1B RIBC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |