Assay Details
Target Gene Details
Entrez Gene ID: | 100130771 |
Gene Name: | EF-hand calcium binding domain 10 |
Gene Aliases: |
- |
Location: |
Chr.7:105565133-105581529 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFCAB10 | NR_027068.1 | 5 | 566 |
Target Gene Details
Entrez Gene ID: | 60561 |
Gene Name: | RAD50 interactor 1 |
Gene Aliases: |
RINT-1 |
Location: |
Chr.7:105532085-105567688 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RINT1 | NM_021930.4 | 13 | 2172 | NP_068749.3 |
XM_005250524.3 | 9 | 1354 | XP_005250581.1 | |
XM_011516458.2 | 9 | 1327 | XP_011514760.1 | |
XM_017012496.1 | 13 | 1951 | XP_016867985.1 | |
XM_017012497.1 | 13 | 2043 | XP_016867986.1 | |
XM_017012498.1 | 10 | 1566 | XP_016867987.1 | |
AF317622.1 | 13 | 2051 | AAG42101.1 | |
AK021847.1 | 5 | 844 | BAB13910.1 | |
AK055508.1 | 13 | 2087 | ||
AK057757.1 | 10 | 1573 | ||
AK308126.1 | 8 | 965 | ||
AL832825.1 | 7 | 1000 | ||
BC007120.2 | 1 | 56 | AAH07120.2 | |
BC068483.1 | 13 | 2173 | AAH68483.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv464668 | Chr.7:105448246 - 105568045 on Build GRCh38 | Gain | RINT1 PUS7 EFCAB10 |
esv2759549 | Chr.7:105117803 - 105568045 on Build GRCh38 | Gain | RINT1 PUS7 SRPK2 EFCAB10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |