Product Details

Assay Reference Genome
Location

Chr.12:105173672 on build GRCh38
Cytoband
12q23.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs77173345] 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.

Target Gene Details

Entrez Gene ID
55198
Gene Symbol
APPL2
Gene Name
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Gene Aliases
DIP13B
Location
Chr.12:105173297-105236230 on build GRCh38
Assay Gene Location
Within Exon 24
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
APPL2 NM_001251904.1 21 2873 NP_001238833.1
NM_001251905.1 21 2898 NP_001238834.1
NM_018171.3 21 2855 NP_060641.2
XM_006719472.1 20 2651 XP_006719535.1
XM_011538530.2 21 4325 XP_011536832.1
XM_011538531.2 21 3988 XP_011536833.1
XM_011538532.2 21 5314 XP_011536834.1
XM_017019551.1 21 3260 XP_016875040.1
XM_017019552.1 21 3970 XP_016875041.1
XM_017019553.1 22 5568 XP_016875042.1
XM_017019554.1 20 2633 XP_016875043.1
AK001521.2
AY113704.1 21 2855 AAM55530.1
BC033731.1 21 2759 AAH33731.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv832506 Chr12:105067496 - 105243783 on Build GRCh38 Gain APPL2 LOC414300 ALDH1L2 KIAA1033

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