Assay Details
Target Gene Details
Entrez Gene ID: | 54550 |
Gene Name: | N-terminal EF-hand calcium binding protein 2 |
Gene Aliases: |
EFCBP2 |
Location: |
Chr.16:83968632-84002776 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NECAB2 | NM_019065.2 | NP_061938.2 | ||
XM_011523135.1 | XP_011521437.1 | |||
XM_017023317.1 | XP_016878806.1 | |||
AF070637.1 | AAC25392.1 | |||
AF193758.1 | AAG28414.1 | |||
AK127376.1 | BAC86948.1 | |||
AY299331.1 | AAP57260.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3572242 | Chr.16:83975928 - 84007908 on Build GRCh38 | Gain | NECAB2 |
nsv528396 | Chr.16:83937637 - 84050522 on Build GRCh38 | Loss | SLC38A8 OSGIN1 NECAB2 LOC105371371 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | ADAD2 SLC38A8 OSGIN1 NECAB2 LOC105371371 KCNG4 DNAAF1 HSDL1 MLYCD MBTPS1 TAF1C LOC729887 |
esv3639405 | Chr.16:83969606 - 84018131 on Build GRCh38 | Loss | SLC38A8 NECAB2 |
dgv5259n54 | Chr.16:83956484 - 84010961 on Build GRCh38 | Loss | SLC38A8 OSGIN1 NECAB2 |
dgv3056n100 | Chr.16:83923502 - 84039073 on Build GRCh38 | Loss | SLC38A8 OSGIN1 NECAB2 LOC105371371 |
nsv471106 | Chr.16:83921780 - 84014793 on Build GRCh38 | Gain | SLC38A8 OSGIN1 NECAB2 LOC105371371 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |