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