Assay Details
Target Gene Details
Entrez Gene ID: | 245973 |
Gene Name: | ATPase H+ transporting V1 subunit C2 |
Gene Aliases: |
ATP6C2, VMA5 |
Location: |
Chr.2:10720974-10785110 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| ATP6V1C2 | NM_001039362.1 | 14 | 3005 | NP_001034451.1 |
| NM_144583.3 | 13 | 2867 | NP_653184.2 | |
| AK127836.1 | 4 | 2900 | ||
| BC012142.1 | 12 | 2778 | AAH12142.1 |
Target Gene Details
Entrez Gene ID: | 10130 |
Gene Name: | protein disulfide isomerase family A member 6 |
Gene Aliases: |
ERP5, P5, TXNDC7 |
Location: |
Chr.2:10783391-10837977 on Build GRCh38 |
Assay Gene Location: | Within Intron 17 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PDIA6 | NM_001282704.1 | NP_001269633.1 | ||
| NM_001282705.1 | NP_001269634.1 | |||
| NM_001282706.1 | NP_001269635.1 | |||
| NM_001282707.1 | NP_001269636.1 | |||
| NM_005742.3 | NP_005733.1 | |||
| XM_011510308.1 | XP_011508610.1 | |||
| AK125449.1 | 1 | 2247 | ||
| AK127433.1 | BAC86977.1 | |||
| AK131234.1 | ||||
| AK225496.1 | ||||
| AK289428.1 | ||||
| AK294347.1 | ||||
| AK297547.1 | ||||
| BC001312.1 | AAH01312.1 | |||
| U79278.1 | AAB50217.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1000731 | Chr.2:10618531 - 10803756 on Build GRCh38 | Gain |
|
| nsv580968 | Chr.2:10783142 - 10793123 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
|

Genomic Map