Assay Details
Target Gene Details
Entrez Gene ID: | 113146 |
Gene Name: | AHNAK nucleoprotein 2 |
Gene Aliases: |
C14orf78 |
Location: |
Chr.14:104937253-104978357 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AHNAK2 | NM_138420.2 | NP_612429.2 | ||
XM_005267299.1 | XP_005267356.1 | |||
AK094143.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1438 | Chr.14:104946391 - 104991244 on Build GRCh38 | Deletion | C14orf79 AHNAK2 |
nsv566141 | Chr.14:104938047 - 105089059 on Build GRCh38 | Gain | C14orf79 GPR132 AHNAK2 CDCA4 |
esv3635634 | Chr.14:104965985 - 105147574 on Build GRCh38 | Gain | C14orf79 GPR132 LOC102723354 JAG2 AHNAK2 CDCA4 |
nsv952276 | Chr.14:104922864 - 105021963 on Build GRCh38 | Deletion | C14orf79 PLD4 AHNAK2 CDCA4 |
nsv1049253 | Chr.14:104918622 - 105005518 on Build GRCh38 | Gain | C14orf79 PLD4 AHNAK2 |
nsv1054574 | Chr.14:103210111 - 105365114 on Build GRCh38 | Loss | ZBTB42 NUDT14 C14orf2 APOPT1 XRCC3 PLD4 EIF5 MIR6765 MIR203B MIR4710 RD3L INF2 ASPG LOC388022 PPP1R13B LOC105370708 TMEM179 CKB JAG2 LOC105378183 MIR203A CEP170B BRF1 AKT1 LINC00638 BTBD6 LOC105370687 TRMT61A PACS2 LOC107984648 LOC105370691 ADSSL1 KLC1 SNORA28 CDCA4 KIF26A C14orf79 GPR132 C14orf180 LOC101929634 SIVA1 LINC00637 TDRD9 ZFYVE21 LOC102723354 MARK3 BAG5 AHNAK2 |
nsv1052190 | Chr.14:104957424 - 105256316 on Build GRCh38 | Gain | NUDT14 C14orf79 GPR132 BRF1 BTBD6 LOC102723354 JAG2 AHNAK2 MIR6765 CDCA4 |
More Information
Additional Information:
For this assay, SNP(s) [rs111431708] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |