Assay Details
Target Gene Details
Entrez Gene ID: | 90288 |
Gene Name: | EF-hand calcium binding domain 12 |
Gene Aliases: |
C3orf25 |
Location: |
Chr.3:129401321-129428651 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFCAB12 | NM_207307.2 | 9 | 2004 | NP_997190.1 |
XM_011513293.2 | 9 | 4078 | XP_011511595.1 | |
XM_011513294.2 | 9 | 4076 | XP_011511596.1 | |
XM_011513295.2 | 9 | 4034 | XP_011511597.1 | |
XM_011513297.2 | 8 | 3926 | XP_011511599.1 | |
XM_011513298.1 | 6 | 1509 | XP_011511600.1 | |
XM_011513299.2 | 6 | 1703 | XP_011511601.1 | |
AK057281.1 | 2 | 1792 | ||
AK096099.1 | 6 | 3100 | ||
AK127968.1 | 9 | 1989 | ||
AL133011.1 | 7 | 5458 | CAH10712.1 | |
BC066975.1 | 9 | 2004 | AAH66975.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2725901 | Chr.3:129380821 - 129487939 on Build GRCh38 | Deletion | RPL32P3 EFCAB12 IFT122 MBD4 SNORA7B |
esv3597741 | Chr.3:129383049 - 129486193 on Build GRCh38 | Loss | RPL32P3 EFCAB12 IFT122 MBD4 SNORA7B |
nsv591652 | Chr.3:129327063 - 129408132 on Build GRCh38 | Gain | RPL32P3 EFCAB12 SNORA7B |
esv3597742 | Chr.3:129400638 - 129408733 on Build GRCh38 | Loss | EFCAB12 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |