Assay Details
Target Gene Details
Entrez Gene ID: | 157773 |
Gene Name: | chromosome 8 open reading frame 48 |
Gene Aliases: |
- |
Location: |
Chr.8:13566843-13568288 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C8orf48 | NM_001007090.2 | 1 | 869 | NP_001007091.1 |
AF394908.1 | 1 | 722 | AAQ02889.1 | |
AK058131.1 | 1 | 869 | BAB71677.1 | |
AK058156.1 | 1 | 249 | BAB71692.1 | |
BC031245.1 | 1 | 817 | AAH31245.1 | |
CB306127.1 | 1 | 595 |
Target Gene Details
Entrez Gene ID: | 10395 |
Gene Name: | DLC1 Rho GTPase activating protein |
Gene Aliases: |
ARHGAP7, HP, STARD12, p122-RhoGAP |
Location: |
Chr.8:13083361-13604606 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DLC1 | XM_017012951.1 | XP_016868440.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3616316 | Chr.8:13567359 - 13968374 on Build GRCh38 | Gain | DLC1 LOC102725080 C8orf48 |
nsv517019 | Chr.8:13511552 - 14801106 on Build GRCh38 | Gain+Loss | DLC1 SGCZ LOC102725080 C8orf48 |
nsv8290 | Chr.8:13234049 - 13677278 on Build GRCh38 | Gain | LOC101930149 DLC1 LOC102725080 C8orf48 |
nsv610412 | Chr.8:13121891 - 13662651 on Build GRCh38 | Gain | LOC101930149 DLC1 LOC102725080 C8orf48 |
nsv1034745 | Chr.8:13524571 - 13670170 on Build GRCh38 | Gain | DLC1 LOC102725080 C8orf48 |
nsv1032823 | Chr.8:13472267 - 13762903 on Build GRCh38 | Gain | DLC1 LOC102725080 C8orf48 |
nsv610411 | Chr.8:13093516 - 14267300 on Build GRCh38 | Loss | LOC101930149 DLC1 SGCZ LOC102725080 C8orf48 |
nsv610420 | Chr.8:13469408 - 13765962 on Build GRCh38 | Gain | DLC1 LOC102725080 C8orf48 |
nsv1022834 | Chr.8:13067043 - 14121780 on Build GRCh38 | Gain | LOC101930149 DLC1 SGCZ LOC102725080 C8orf48 |
nsv470185 | Chr.8:13539114 - 13573069 on Build GRCh38 | Loss | DLC1 C8orf48 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |