Product Details

Assay Reference Genome
Location

Chr.8:2938275 on build GRCh38
Cytoband
8p23.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs112788627] 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
64478
Gene Symbol
CSMD1
Gene Name
CUB and Sushi multiple domains 1
Gene Aliases
PPP1R24
Location
Chr.8:2935353-4995035 on build GRCh38
Assay Gene Location
Within Exon 73
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CSMD1 NM_033225.5 70 11395 NP_150094.5
XM_011534752.2 69 11579 XP_011533054.1
XM_011534753.2 53 8502 XP_011533055.1
XM_011534754.1 46 7238 XP_011533056.1
AA889055.1
AB209502.1 56 9213 BAD92739.1
AF333704.2 71 11401 AAK73475.2
AK127129.1 20 3368
AW293447.1 1 392
AY017307.1 68 10765 AAG52948.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1033589 Chr8:2490387 - 3447578 on Build GRCh38 Loss CSMD1 LOC101927815 LOC105377792
dgv1357e214 Chr8:2895602 - 3065852 on Build GRCh38 Gain CSMD1 LOC105377792
esv3584570 Chr8:2827824 - 3129358 on Build GRCh38 Gain CSMD1 LOC105377792
esv3891261 Chr8:2316229 - 3462226 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
esv3615892 Chr8:2811468 - 2947245 on Build GRCh38 Gain CSMD1
dgv6815n100 Chr8:2193919 - 3295843 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792 LOC105377781
dgv11848n54 Chr8:2320544 - 3445528 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
nsv609710 Chr8:2872547 - 3175339 on Build GRCh38 Gain CSMD1 LOC105377792
esv3584572 Chr8:2935217 - 3102350 on Build GRCh38 Gain CSMD1 LOC105377792
nsv1027569 Chr8:2660367 - 3086961 on Build GRCh38 Loss CSMD1 LOC101927815 LOC105377792
esv3891260 Chr8:2479995 - 2940254 on Build GRCh38 Gain CSMD1 LOC101927815
nsv1024325 Chr8:651043 - 3203837 on Build GRCh38 Gain MIR596 LOC105377774 MIR3674 LOC105377776 KBTBD11-OT1 LOC286083 CSMD1 DLGAP2 MYOM2 LOC101927815 LOC105377792 LOC101928058 LOC401442 ARHGEF10 MIR7160 CLN8 LOC105377777 ERICH1-AS1 ERICH1 LOC100131395 LOC101927752 LOC105377781 DLGAP2-AS1 KBTBD11
nsv517808 Chr8:2269008 - 3111255 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
nsv1034294 Chr8:2901778 - 3054246 on Build GRCh38 Gain CSMD1 LOC105377792
nsv1018407 Chr8:2866772 - 3447578 on Build GRCh38 Gain CSMD1 LOC105377792
dgv6827n100 Chr8:2473547 - 3062661 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
nsv831209 Chr8:2767402 - 2954003 on Build GRCh38 Loss CSMD1

View Full Product Details