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 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
APH1A | NM_001077628.2 | 7 | 1815 | NP_001071096.1 |
NM_001243771.1 | 5 | 1982 | NP_001230700.1 | |
NM_001243772.1 | 6 | 1605 | NP_001230701.1 | |
NM_016022.3 | 6 | 2153 | NP_057106.2 | |
NR_045033.1 | 6 | 2017 | ||
NR_045034.1 | 4 | 1908 | ||
NR_045035.1 | 5 | 2079 | ||
XM_017001417.1 | 8 | 2227 | XP_016856906.1 | |
AF151835.1 | 6 | 1855 | AAD34072.1 | |
AF508787.1 | 6 | 1811 | AAN63816.1 | |
AK027879.1 | ||||
AK075295.1 | 6 | 1872 | BAC11529.1 | |
AK075452.1 | 6 | 1961 | ||
AK125685.1 | 1 | 1901 | ||
AK298832.1 | 6 | 1412 | ||
AK307358.1 | 4 | 1715 | ||
AX775955.1 | 6 | 1889 | CAE11677.1 | |
AX775957.1 | 7 | 1605 | CAE11678.1 | |
AY358951.1 | 6 | 1957 | AAQ89310.1 | |
BC001230.2 | 7 | 1585 | AAH01230.1 | |
BC008732.2 | 6 | 1910 | AAH08732.1 | |
BC009501.2 | 6 | 1944 | AAH09501.1 | |
BC015568.2 | 7 | 1574 | AAH15568.1 | |
BC017699.1 | 6 | 1889 | AAH17699.1 | |
BC020590.1 | 7 | 1605 | AAH20590.1 | |
BI760743.1 | 1 | 213 |
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 | MRPS21 APH1A CA14 CIART C1orf54 |
nsv1011223 | Chr.1:150256810 - 150306949 on Build GRCh38 | Gain | MRPS21 APH1A CA14 CIART C1orf54 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |