Product Details

Assay Reference Genome
Location

Chr.5:148983161 on build GRCh38
Cytoband
5q32
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs146796490] 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
79628
Gene Symbol
SH3TC2
Gene Name
SH3 domain and tetratricopeptide repeats 2
Gene Aliases
CMT4C, MNMN
Location
Chr.5:148982150-149063174 on build GRCh38
Assay Gene Location
Within Exon 17
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
SH3TC2 NM_024577.3 17 25569 NP_078853.2
AK023641.1 1 955

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv508383 Chr5:148884174 - 148987167 on Build GRCh38 Deletion SH3TC2
nsv830517 Chr5:148953659 - 149171578 on Build GRCh38 Gain ABLIM3 SH3TC2 MIR584 LOC255187

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