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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
APH1A | XM_017001417.1 | XP_016856906.1 |
Target Gene Details
Entrez Gene ID: | 79630 |
Gene Name: | chromosome 1 open reading frame 54 |
Gene Aliases: |
- |
Location: |
Chr.1:150272284-150280927 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C1orf54 | NM_001301039.1 | NP_001287968.1 | ||
NM_001301040.1 | NP_001287969.1 | |||
NM_001301041.1 | NP_001287970.1 | |||
NM_001301042.1 | NP_001287971.1 | |||
NM_024579.3 | NP_078855.2 | |||
XM_011509984.2 | XP_011508286.1 | |||
AA095731.1 | ||||
AI342055.1 | ||||
AK026874.1 | BAB15579.1 | |||
AX770997.1 | CAE01160.1 | |||
AX770998.1 | CAE01161.1 | |||
AX770999.1 | CAE01162.1 | |||
BC017761.1 | AAH17761.1 | |||
DA358536.1 | ||||
T82829.1 | ||||
W93038.1 |
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 | C1orf54 APH1A MRPS21 CA14 CIART |
nsv1011223 | Chr.1:150256810 - 150306949 on Build GRCh38 | Gain | C1orf54 APH1A MRPS21 CA14 CIART |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |