Assay Details
Target Gene Details
Entrez Gene ID: | 60509 |
Gene Name: | ATP/GTP binding protein like 5 |
Gene Aliases: |
CCP5, RP75 |
Location: |
Chr.2:27051423-27070622 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AGBL5 | NM_021831.5 | 15 | 3167 | NP_068603.4 |
NR_104246.1 | 16 | 3214 | ||
XM_005264477.2 | 14 | 3033 | XP_005264534.1 | |
AI990522.1 | 1 | 71 | ||
AL833844.1 | 15 | 3109 | CAD38704.1 | |
BC007415.2 | 16 | 3156 |
Target Gene Details
Entrez Gene ID: | 100128731 |
Gene Name: | oligosaccharyltransferase complex subunit 4, non-catalytic |
Gene Aliases: |
- |
Location: |
Chr.2:27070472-27071699 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OST4 | NM_001134693.1 | 3 | 407 | NP_001128165.1 |
AA772256.1 | 1 | 103 | ||
AL049447.1 | 3 | 333 | ||
BF697310.1 | 3 | 407 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv6744n54 | Chr.2:26973431 - 27151141 on Build GRCh38 | Loss | PREB TMEM214 MAPRE3 AGBL5-AS1 TRA-AGC8-1 CGREF1 PRR30 AGBL5 LOC100129724 OST4 ABHD1 KHK TCF23 EMILIN1 |
nsv817673 | Chr.2:27037601 - 27163931 on Build GRCh38 | Gain | OST4 PREB TMEM214 ABHD1 AGBL5-AS1 TRA-AGC8-1 CGREF1 KHK PRR30 TCF23 AGBL5 EMILIN1 |
nsv833603 | Chr.2:27059106 - 27263631 on Build GRCh38 | Loss | PREB CGREF1 PRR30 AGBL5 OST4 SLC5A6 ABHD1 SLC30A3 CAD KHK TCF23 ATRAID EMILIN1 |
nsv455974 | Chr.2:26989775 - 27128411 on Build GRCh38 | Loss | OST4 TMEM214 ABHD1 MAPRE3 AGBL5-AS1 TRA-AGC8-1 CGREF1 KHK AGBL5 LOC100129724 EMILIN1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |