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Gene Symbol
AP2A1
Assay Reference Genome
Location

Chr.19:49797170 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04033873_cn
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Catalog # 4400291
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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 SNAR-A7 CCDC155 FLT3LG MIR150 SNAR-A9 KCNA7 CGB3 AKT1S1 PNKP SNAR-D SPACA4 CD37 TMEM143 TULP2 FUT1 HSD17B14 SNAR-A14 SNAR-C2 CCDC114 MED25 PLEKHA4 C19orf68 SNAR-C4 CGB5 C19orf73 VRK3 PPFIA3 NUCB1 MIR4749 FGF21 ATF5 PLA2G4C FUT2 CGB1 NTF4 SNAR-A8 SNAR-B2 NTN5 CABP5 LOC101059948 BAX IZUMO1 PTOV1 PTH2 SNORD34 DBP SNAR-A3 SIGLEC16 SNAR-A13 DKKL1 NUP62 FTL SLC17A7 RPL18 SNORD33 FLJ26850 SNRNP70 PLA2G4C-AS1 GYS1 SNAR-C3 BCL2L12 KCNJ14 RPL13A CARD8-AS1 CA11 HRC RCN3 RUVBL2 EMP3 CPT1C FAM83E SNAR-C5 SNAR-C1 GRWD1 FUZ BCAT2 PRR12 LHB DHDH LOC105372430 LMTK3 ZNF114 MIR4750 PIH1D1 GRIN2D SNAR-A2 SLC6A16 CGB2 SULT2B1 SNORD32A GFY PRMT1 FCGRT LIG1 CGB7 ADM5 CYTH2 SNAR-A12 SCAF1 PPP1R15A MIR5088 PTOV1-AS1 LIN7B ZNF473 PRRG2 NUCB1-AS1 SPHK2 MIR6798 MAMSTR SNAR-A11 TSKS BSPH1 ALDH16A1 MIR4751 MIR4324 SNAR-A1 SYNGR4 SEC1P MIR6800 IL4I1 SNORD35A SNAR-A10 TBC1D17 SNAR-A6 CGB8 SNORD35B KDELR1 TEAD2 SNAR-A5 RPS11 LOC105447645 PTOV1-AS2 SIGLEC11 SNAR-G2 SNAR-B1 LOC100287477 MIR6799 AP2A1 LOC101928295 CARD8 NOSIP SNAR-G1 TRPM4 IRF3 RRAS RASIP1 SNAR-A4 ELSPBP1
nsv470150 Chr.19:49618821 - 49856789 on Build GRCh38 Gain TSKS PTOV1-AS2 ADM5 PTOV1 SCAF1 MIR5088 BCL2L12 PTOV1-AS1 MIR6800 MIR6799 AP2A1 MIR4749 CPT1C FUZ IRF3 RRAS PRMT1 PRR12 MED25
dgv53n68 Chr.19:49724393 - 49943224 on Build GRCh38 Loss TSKS PTOV1-AS2 PTOV1 MIR4750 AKT1S1 PNKP MIR4751 PTOV1-AS1 MIR6800 MIR6799 AP2A1 IL4I1 MIR4749 ATF5 FUZ TBC1D17 NUP62 MED25
nsv953600 Chr.19:49555044 - 49938043 on Build GRCh38 Deletion TSKS PTOV1 MIR4750 AKT1S1 PNKP MIR4751 MIR6800 IL4I1 TBC1D17 PRMT1 NUP62 MED25 PTOV1-AS2 ADM5 SCAF1 MIR5088 BCL2L12 PTOV1-AS1 MIR6799 AP2A1 PRRG2 MIR4749 ATF5 CPT1C NOSIP FUZ IRF3 RRAS PRR12
nsv1160655 Chr.19:49489110 - 49841830 on Build GRCh38 Deletion TSKS MIR150 SNORD34 MIR6800 SNORD35A SNORD32A PRMT1 SNORD35B FCGRT MED25 RPS11 ADM5 SNORD33 SCAF1 MIR5088 BCL2L12 PTOV1-AS1 MIR6799 RPL13A AP2A1 PRRG2 RCN3 CPT1C NOSIP FUZ IRF3 RRAS PRR12
esv3427277 Chr.19:49796183 - 49797481 on Build GRCh38 Duplication AP2A1

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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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Function(s) Process(es)


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