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