Assay Details
Target Gene Details
Entrez Gene ID: | 160 |
Gene Name: | adaptor related protein complex 2 alpha 1 subunit |
Gene Aliases: |
ADTAA, AP2-ALPHA, CLAPA1 |
Location: |
Chr.19:49766923-49807114 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AP2A1 | NM_014203.2 | NP_055018.2 | ||
NM_130787.2 | NP_570603.2 | |||
XM_011526556.2 | XP_011524858.1 | |||
XM_011526557.2 | XP_011524859.1 | |||
AK124343.1 | 8 | 1989 | ||
AK302005.1 | ||||
AL136925.1 | CAB66859.1 | |||
BC014214.2 | AAH14214.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | MIR4751 PLA2G4C PIH1D1 PTH2 MED25 LMTK3 RPL13A KDELR1 NOSIP SNAR-A6 DHDH EMP3 SNAR-B2 SLC17A7 RRAS IL4I1 MIR5088 LIN7B SIGLEC16 DBP SYNGR4 SNAR-A4 KCNA7 PRMT1 SNAR-C5 SNAR-A3 SEC1P PNKP SNAR-A1 LIG1 BCAT2 LOC105372430 GRIN2D SNAR-C1 TEAD2 IZUMO1 SNAR-A10 TSKS LOC101928295 TRPM4 BAX SNAR-A7 IRF3 CGB2 TMEM143 FLJ26850 ZNF473 SNAR-B1 RPL18 MIR4324 AP2A1 MIR4749 SNAR-A12 BCL2L12 ZNF114 ADM5 RASIP1 NUP62 PLEKHA4 GRWD1 VRK3 SNORD33 KCNJ14 RPS11 CGB8 PRR12 TULP2 PRRG2 SNAR-D CGB3 CYTH2 SNRNP70 PPFIA3 SNAR-A11 MIR4750 SPACA4 CGB1 PLA2G4C-AS1 CGB5 MAMSTR SNORD32A MIR6800 GFY CGB7 SPHK2 SNAR-A2 CABP5 PTOV1 RCN3 DKKL1 CARD8 MIR6798 SNAR-A13 MIR6799 SNAR-C2 LOC100287477 LHB CARD8-AS1 NUCB1 SNAR-A8 ELSPBP1 C19orf68 FTL LOC101059948 SNAR-A5 TBC1D17 C19orf73 SCAF1 ALDH16A1 SNORD35B HSD17B14 PPP1R15A SNAR-A14 SNAR-C4 CD37 PTOV1-AS2 HRC CCDC155 AKT1S1 FUZ ATF5 SNAR-G2 CCDC114 SIGLEC11 SNAR-A9 NUCB1-AS1 SNAR-C3 BSPH1 SLC6A16 FUT1 RUVBL2 CPT1C NTN5 LOC105447645 FGF21 SNAR-G1 NTF4 MIR150 CA11 SULT2B1 SNORD35A FCGRT FLT3LG FAM83E SNORD34 FUT2 PTOV1-AS1 GYS1 |
nsv470150 | Chr.19:49618821 - 49856789 on Build GRCh38 | Gain | IRF3 RRAS PTOV1-AS2 CPT1C MIR5088 MED25 AP2A1 MIR4749 BCL2L12 FUZ ADM5 MIR6800 TSKS PRMT1 SCAF1 PTOV1 PTOV1-AS1 PRR12 MIR6799 |
dgv53n68 | Chr.19:49724393 - 49943224 on Build GRCh38 | Loss | MIR4751 PTOV1-AS2 MIR4750 IL4I1 MED25 AP2A1 MIR4749 AKT1S1 FUZ ATF5 MIR6800 TBC1D17 TSKS NUP62 PTOV1 PTOV1-AS1 PNKP MIR6799 |
nsv953600 | Chr.19:49555044 - 49938043 on Build GRCh38 | Deletion | MIR4751 PTOV1-AS2 MIR4750 MED25 AKT1S1 FUZ ATF5 MIR6800 TSKS NOSIP PTOV1 MIR6799 IRF3 RRAS CPT1C IL4I1 MIR5088 AP2A1 MIR4749 BCL2L12 ADM5 TBC1D17 NUP62 PRMT1 SCAF1 PTOV1-AS1 PNKP PRR12 PRRG2 |
nsv1160655 | Chr.19:49489110 - 49841830 on Build GRCh38 | Deletion | MED25 FUZ SNORD32A MIR6800 RPL13A TSKS NOSIP RCN3 MIR6799 IRF3 RRAS CPT1C MIR5088 AP2A1 BCL2L12 ADM5 MIR150 SNORD35A PRMT1 FCGRT SCAF1 SNORD35B SNORD33 SNORD34 PTOV1-AS1 RPS11 PRR12 PRRG2 |
esv3427277 | Chr.19:49796183 - 49797481 on Build GRCh38 | Duplication | AP2A1 |
More Information
Additional Information:
For this assay, SNP(s) [rs74892778] 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 |