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 Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AHNAK2 | NM_138420.2 | 7 | 14314 | NP_612429.2 |
XM_005267299.1 | 7 | 14167 | XP_005267356.1 | |
AB095939.1 | 1 | 5215 | BAC23115.1 | |
AK126472.1 | 1 | 796 | ||
BC090889.1 | AAH90889.1 | |||
BX537923.1 | 1 | 196 | CAD97904.1 | |
BX538040.1 | CAD97981.1 | |||
BX538106.1 | 1 | 436 | CAD98019.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv566139 | Chr.14:104880959 - 104950810 on Build GRCh38 | Loss | CEP170B AHNAK2 PLD4 |
nsv566099 | Chr.14:104818822 - 104946204 on Build GRCh38 | Gain | CEP170B AHNAK2 LINC00638 PLD4 |
nsv821194 | Chr.14:104940674 - 104953760 on Build GRCh38 | Deletion | AHNAK2 |
nsv566141 | Chr.14:104938047 - 105089059 on Build GRCh38 | Gain | CDCA4 GPR132 AHNAK2 C14orf79 |
dgv390n67 | Chr.14:104941014 - 104953758 on Build GRCh38 | Gain | AHNAK2 |
esv25274 | Chr.14:104934334 - 104953760 on Build GRCh38 | Gain | AHNAK2 PLD4 |
nsv952276 | Chr.14:104922864 - 105021963 on Build GRCh38 | Deletion | CDCA4 AHNAK2 C14orf79 PLD4 |
nsv1049253 | Chr.14:104918622 - 105005518 on Build GRCh38 | Gain | AHNAK2 C14orf79 PLD4 |
nsv1054574 | Chr.14:103210111 - 105365114 on Build GRCh38 | Loss | KLC1 C14orf180 ASPG CEP170B APOPT1 BRF1 MIR6765 TRMT61A PACS2 AKT1 LOC105370691 LOC107984648 ZBTB42 ZFYVE21 LOC105370687 MIR4710 LINC00638 MIR203B INF2 ADSSL1 GPR132 BAG5 RD3L MIR203A KIF26A PLD4 LOC105370708 CDCA4 XRCC3 EIF5 CKB AHNAK2 C14orf79 TDRD9 PPP1R13B LOC105378183 LOC102723354 SNORA28 TMEM179 LOC101929634 C14orf2 LINC00637 BTBD6 LOC388022 MARK3 JAG2 NUDT14 SIVA1 |
More Information
Additional Information:
For this assay, SNP(s) [rs76611205] 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 Exonic DGV Variation |