Assay Details
Target Gene Details
Entrez Gene ID: | 197131 |
Gene Name: | ubiquitin protein ligase E3 component n-recognin 1 |
Gene Aliases: |
JBS |
Location: |
Chr.15:42942897-43106088 on Build GRCh38 |
Assay Gene Location: | Within Intron 44 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UBR1 | NM_174916.2 | NP_777576.1 | ||
AF525401.1 | AAO14997.1 | |||
AK127478.1 | ||||
AY061886.1 | AAL32103.1 | |||
BC113505.1 | ||||
BC113507.1 | ||||
BX648400.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv525461 | Chr.15:42770350 - 43189929 on Build GRCh38 | Loss | TTBK2 TMEM62 CCNDBP1 UBR1 |
nsv569241 | Chr.15:42908911 - 43230724 on Build GRCh38 | Loss | TTBK2 TMEM62 CCNDBP1 UBR1 EPB42 |
esv3636283 | Chr.15:42857607 - 42985063 on Build GRCh38 | Gain | TTBK2 UBR1 |
nsv515876 | Chr.15:42824708 - 43153107 on Build GRCh38 | Gain+Loss | TTBK2 TMEM62 UBR1 |
esv3636285 | Chr.15:42907489 - 42978310 on Build GRCh38 | Gain | TTBK2 UBR1 |
nsv1036512 | Chr.15:42872708 - 42982333 on Build GRCh38 | Gain | TTBK2 UBR1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |