Assay Details
Target Gene Details
Entrez Gene ID: | 124989 |
Gene Name: | EF-hand calcium binding domain 13 |
Gene Aliases: |
C17orf57 |
Location: |
Chr.17:47323961-47441312 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFCAB13 | NM_001195192.1 | NP_001182121.1 | ||
NM_152347.4 | NP_689560.3 | |||
AK097661.1 | BAC05135.1 | |||
BC036407.2 | AAH36407.1 | |||
BC037876.1 | AAH37876.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516872 | Chr.17:47341773 - 47624914 on Build GRCh38 | Gain+Loss | NPEPPS EFCAB13 MRPL45P2 |
dgv3261n100 | Chr.17:47339172 - 47441706 on Build GRCh38 | Loss | EFCAB13 |
nsv470590 | Chr.17:47341772 - 47469711 on Build GRCh38 | Loss | EFCAB13 MRPL45P2 |
dgv578e214 | Chr.17:47350758 - 47441366 on Build GRCh38 | Loss | EFCAB13 |