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: | Overlaps Intron 5 - Exon 6 |
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 | XP_016856906.1 | |||
AF151835.1 | AAD34072.1 | |||
AF508787.1 | AAN63816.1 | |||
AK027879.1 | ||||
AK075295.1 | BAC11529.1 | |||
AK075452.1 | ||||
AK297680.1 | ||||
AK298832.1 | ||||
AK298876.1 | ||||
AK300640.1 | ||||
AK307358.1 | ||||
AK314490.1 | ||||
AX775955.1 | CAE11677.1 | |||
AX775957.1 | CAE11678.1 | |||
AY113698.1 | AAM61955.1 | |||
AY113699.1 | AAM61956.1 | |||
AY358951.1 | AAQ89310.1 | |||
BC001230.2 | AAH01230.1 | |||
BC008732.2 | AAH08732.1 | |||
BC009501.2 | AAH09501.1 | |||
BC015568.2 | AAH15568.1 | |||
BC017699.1 | AAH17699.1 | |||
BC020590.1 | AAH20590.1 |
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 | CA14 APH1A C1orf54 MRPS21 CIART |
nsv1011223 | Chr.1:150256810 - 150306949 on Build GRCh38 | Gain | CA14 APH1A C1orf54 MRPS21 CIART |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |