Assay Details
Target Gene Details
Entrez Gene ID: | 4901 |
Gene Name: | neural retina leucine zipper |
Gene Aliases: |
D14S46E, NRL-MAF, RP27 |
Location: |
Chr.14:24078693-24114924 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NRL | XM_005267708.4 | XP_005267765.1 | ||
XM_005267709.3 | XP_005267766.1 | |||
XM_005267710.3 | XP_005267767.1 | |||
XM_011536801.2 | XP_011535103.2 | |||
XM_011536802.1 | XP_011535104.1 | |||
XM_011536806.2 | XP_011535108.2 | |||
XM_017021350.1 | XP_016876839.1 | |||
BX161381.1 | CAD61873.1 | |||
BX161522.1 | CAD61954.1 |
Target Gene Details
Entrez Gene ID: | 5106 |
Gene Name: | phosphoenolpyruvate carboxykinase 2, mitochondrial |
Gene Aliases: |
PEPCK, PEPCK-M, PEPCK2 |
Location: |
Chr.14:24094131-24104132 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCK2 | NM_001018073.2 | 1 | 165 | NP_001018083.2 |
NM_001291556.1 | 1 | 165 | NP_001278485.1 | |
NM_001308054.1 | NP_001294983.1 | |||
NM_004563.3 | 1 | 165 | NP_004554.3 | |
XM_006720158.2 | 1 | 158 | XP_006720221.1 | |
AK129934.1 | ||||
AK307913.1 | ||||
AK311710.1 | ||||
AK316206.1 | ||||
DA645036.1 | ||||
DB028389.1 | 1 | 158 | ||
HY022221.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv564057 | Chr.14:24056425 - 24149650 on Build GRCh38 | Loss | CPNE6 EMC9 RNF31 PSME1 MIR7703 NRL PCK2 CARMIL3 FITM1 DCAF11 PSME2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |