Assay Details
Target Gene Details
Entrez Gene ID: | 3329 |
Gene Name: | heat shock protein family D (Hsp60) member 1 |
Gene Aliases: |
CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13 |
Location: |
Chr.2:197486584-197500274 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSPD1 | NM_199440.1 | 1 | 70 | NP_955472.1 |
BG701476.1 | 1 | 92 |
Target Gene Details
Entrez Gene ID: | 3336 |
Gene Name: | heat shock protein family E (Hsp10) member 1 |
Gene Aliases: |
CPN10, EPF, GROES, HSP10 |
Location: |
Chr.2:197499997-197503463 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSPE1 | NM_002157.2 | 1 | 209 | NP_002148.1 |
CN264788.1 | 1 | 214 |
Target Gene Details
Entrez Gene ID: | 100529241 |
Gene Name: | HSPE1-MOB4 readthrough |
Gene Aliases: |
HSPE1-PHOCN |
Location: |
Chr.2:197499997-197553699 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSPE1-MOB4 | NM_001202485.1 | 1 | 209 | NP_001189414.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1014881 | Chr.2:197432432 - 197668882 on Build GRCh38 | Gain | HSPE1 RFTN2 SNORA105B COQ10B HSPE1-MOB4 MOB4 SF3B1 HSPD1 |
nsv979161 | Chr.2:197496311 - 197501196 on Build GRCh38 | Duplication | HSPE1 HSPE1-MOB4 HSPD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |