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 Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFCAB13 | NM_001195192.1 | 10 | 1171 | NP_001182121.1 |
NM_152347.4 | 12 | 1459 | NP_689560.3 | |
AK097661.1 | 9 | 1018 | BAC05135.1 | |
BC036407.2 | 12 | 1439 | AAH36407.1 | |
BC037876.1 | 10 | 1112 | 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 | MRPL45P2 EFCAB13 NPEPPS |
esv3893025 | Chr.17:47358209 - 47429316 on Build GRCh38 | Loss | EFCAB13 |
dgv3261n100 | Chr.17:47339172 - 47441706 on Build GRCh38 | Loss | EFCAB13 |
nsv470590 | Chr.17:47341772 - 47469711 on Build GRCh38 | Loss | MRPL45P2 EFCAB13 |
dgv578e214 | Chr.17:47350758 - 47441366 on Build GRCh38 | Loss | EFCAB13 |
nsv525267 | Chr.17:47374528 - 47658340 on Build GRCh38 | Gain | MRPL45P2 EFCAB13 NPEPPS KPNB1 |