Assay Details
Target Gene Details
Entrez Gene ID: | 23621 |
Gene Name: | beta-secretase 1 |
Gene Aliases: |
ASP2, BACE, HSPC104 |
Location: |
Chr.11:117285686-117316256 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BACE1 | NM_001207048.1 | 8 | 3102 | NP_001193977.1 |
NM_001207049.1 | 8 | 3027 | NP_001193978.1 | |
NM_012104.4 | 9 | 3740 | NP_036236.1 | |
NM_138971.3 | 9 | 3608 | NP_620427.1 | |
NM_138972.3 | 9 | 3665 | NP_620428.1 | |
NM_138973.3 | 9 | 3533 | NP_620429.1 | |
AB032975.2 | 9 | 3722 | BAA86463.2 | |
AB177847.1 | 8 | 2964 | BAD66825.1 | |
AF200193.1 | AAF13715.1 | |||
AF201468.1 | 9 | 3733 | AAF18982.1 | |
AL833810.1 | 1 | 1012 | CAD38674.1 | |
BC065492.1 | 9 | 3740 | AAH65492.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1038815 | Chr.11:117287202 - 117403925 on Build GRCh38 | Gain | CEP164 BACE1-AS BACE1 |
nsv509443 | Chr.11:117255121 - 117293441 on Build GRCh38 | Insertion | BACE1-AS RNF214 BACE1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |