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See other AP2A2 CNV Assays ›
Gene Symbol
AP2A2
Assay Reference Genome
Location

Chr.11:928033 on build GRCh38
Cytoband
11p15.5
Assay ID Hs03786221_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 161

Gene Name:

 adaptor related protein complex 2 alpha 2 subunit

Gene Aliases:

 ADTAB, CLAPA2, HIP-9, HIP9, HYPJ

Location:

 Chr.11:925809-1012245 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
AP2A2 NM_001242837.1 NP_001229766.1
NM_012305.3 NP_036437.1
XM_011519930.2 XP_011518232.1
AB020706.2 BAA74922.2
AK001986.1
AK027891.1 BAB55435.1
AK223558.1 BAD97278.1
AK293763.1
AK299364.1
BC006155.1 AAH06155.1
BG705558.1
BI462785.1
DB461570.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3625088 Chr.11:876861 - 979340 on Build GRCh38 Gain CHID1 AP2A2
nsv469923 Chr.11:378188 - 1302334 on Build GRCh38 Loss TOLLIP PHRF1 CHID1 RNH1 CEND1 MUC5AC SIGIRR EPS8L2 ANO9 PNPLA2 PTDSS2 PANO1 AP2A2 DRD4 LOC101927503 MIR6744 CDHR5 POLR2L CRACR2B RASSF7 PDDC1 RPLP2 MIR210HG LOC171391 DEAF1 HRAS IRF7 TSPAN4 MUC6 SCT MUC2 B4GALNT4 LRRC56 LOC101059906 LMNTD2 MUC5B CD151 TMEM80 SLC25A22 MIR210 PIDD1 TALDO1 LOC143666 SNORA52 PKP3
dgv175e214 Chr.11:851409 - 1043855 on Build GRCh38 Gain MUC6 CHID1 AP2A2 TSPAN4
dgv1013n100 Chr.11:772982 - 933569 on Build GRCh38 Gain CHID1 CEND1 PNPLA2 PANO1 AP2A2 POLR2L CD151 CRACR2B SLC25A22 PDDC1 PIDD1 RPLP2 LOC171391 SNORA52 TSPAN4
nsv428244 Chr.11:882364 - 1061595 on Build GRCh38 Loss MUC6 CHID1 AP2A2 LOC101927503
esv2759794 Chr.11:409846 - 1336162 on Build GRCh38 Loss TOLLIP PHRF1 CHID1 TOLLIP-AS1 RNH1 CEND1 MUC5AC SIGIRR EPS8L2 ANO9 PNPLA2 PTDSS2 PANO1 AP2A2 DRD4 LOC101927503 MIR6744 CDHR5 POLR2L CRACR2B RASSF7 PDDC1 RPLP2 MIR210HG LOC171391 DEAF1 HRAS IRF7 TSPAN4 MUC6 SCT MUC2 LRRC56 LOC101059906 LMNTD2 MUC5B CD151 TMEM80 SLC25A22 MIR210 PIDD1 TALDO1 LOC143666 SNORA52
esv2669189 Chr.11:864834 - 1489637 on Build GRCh38 Deletion TOLLIP MUC6 CHID1 MUC2 TOLLIP-AS1 MOB2 MUC5AC BRSK2 AP2A2 LOC101927503 MIR6744 MUC5B TSPAN4
nsv832044 Chr.11:809019 - 938308 on Build GRCh38 Loss CRACR2B CHID1 PIDD1 PNPLA2 RPLP2 AP2A2 SNORA52 POLR2L CD151 TSPAN4
dgv182e199 Chr.11:349830 - 943372 on Build GRCh38 Deletion PHRF1 CHID1 RNH1 CEND1 SIGIRR EPS8L2 ANO9 PNPLA2 PTDSS2 PANO1 AP2A2 DRD4 CDHR5 POLR2L CRACR2B RASSF7 PDDC1 RPLP2 MIR210HG LOC171391 DEAF1 HRAS IRF7 TSPAN4 SCT B4GALNT4 LRRC56 LOC101059906 LMNTD2 CD151 TMEM80 SLC25A22 MIR210 PIDD1 TALDO1 LOC143666 SNORA52 PKP3
esv2743878 Chr.11:864732 - 1489652 on Build GRCh38 Deletion TOLLIP MUC6 CHID1 MUC2 TOLLIP-AS1 MOB2 MUC5AC BRSK2 AP2A2 LOC101927503 MIR6744 MUC5B TSPAN4

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More Information


Additional Information:

For this assay, SNP(s) [rs117204479] 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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