Assay Details
Target Gene Details
Entrez Gene ID: | 51107 |
Gene Name: | aph-1 homolog A, gamma-secretase subunit |
Gene Aliases: |
6530402N02Rik, APH-1, APH-1A, CGI-78 |
Location: |
Chr.1:150265399-150282291 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
APH1A | NM_001077628.2 | NP_001071096.1 | ||
NM_001243771.1 | NP_001230700.1 | |||
NM_001243772.1 | NP_001230701.1 | |||
NM_016022.3 | NP_057106.2 | |||
NR_045033.1 | ||||
NR_045034.1 | ||||
NR_045035.1 | ||||
XM_017001417.1 | 3 | 585 | XP_016856906.1 | |
DA589586.1 | 1 | 137 | ||
DC365601.1 | 1 | 137 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1009508 | Chr.1:150238763 - 150298405 on Build GRCh38 | Loss | CIART APH1A MRPS21 C1orf54 CA14 |
nsv1011223 | Chr.1:150256810 - 150306949 on Build GRCh38 | Gain | CIART APH1A MRPS21 C1orf54 CA14 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |