Assay Details
Target Gene Details
Entrez Gene ID: | 201161 |
Gene Name: | centromere protein V |
Gene Aliases: |
3110013H01Rik, CENP-V, PRR6, p30 |
Location: |
Chr.17:16342534-16353498 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CENPV | NM_181716.2 | 5 | 825 | NP_859067.2 |
AF514992.1 | 5 | 761 | AAM76703.1 | |
AY382899.1 | 3 | 799 | AAR24368.1 | |
BC052604.1 | 5 | 835 | AAH52604.1 | |
BC137486.1 | 5 | 857 | ||
BC137487.1 | 5 | 857 | ||
BU618545.1 | 1 | 357 |
Target Gene Details
Entrez Gene ID: | 9487 |
Gene Name: | phosphatidylinositol glycan anchor biosynthesis class L |
Gene Aliases: |
CHIME |
Location: |
Chr.17:16217195-16351800 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PIGL | XM_017025349.1 | XP_016880838.1 | ||
XM_017025350.1 | XP_016880839.1 | |||
XM_017025352.1 | XP_016880841.1 | |||
XM_017025353.1 | XP_016880842.1 | |||
XM_017025354.1 | XP_016880843.1 | |||
XM_017025355.1 | XP_016880844.1 | |||
XM_017025356.1 | XP_016880845.1 | |||
AK023469.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1063764 | Chr.17:16268335 - 16759600 on Build GRCh38 | Loss | PIGL MIR1288 SNORD49B SNORD65 TRPV2 SNORD49A UBB ZNF287 CCDC144A ZNF624 CENPV LRRC75A LRRC75A-AS1 |
esv2715702 | Chr.17:15750514 - 16668268 on Build GRCh38 | Deletion | PIGL MIR1288 ZSWIM7 SNORD49B ADORA2B CDRT15P2 SNORD65 TRPV2 SNORD49A UBB NCOR1 ZNF287 CCDC144A ZNF624 LOC101928567 TTC19 MEIS3P1 CENPV LRRC75A LRRC75A-AS1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |