Assay Details
Target Gene Details
Entrez Gene ID: | 341346 |
Gene Name: | single-pass membrane protein with coiled-coil domains 2 |
Gene Aliases: |
C12orf70 |
Location: |
Chr.12:27446482-27506911 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMCO2 | XM_011520634.2 | XP_011518936.1 | ||
XM_011520636.2 | XP_011518938.1 | |||
XM_017019254.1 | XP_016874743.1 | |||
XM_017019255.1 | XP_016874744.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv1406n100 | Chr.12:27128236 - 27640822 on Build GRCh38 | Gain | STK38L PPFIBP1 ARNTL2-AS1 ARNTL2 SMCO2 |
dgv2417n54 | Chr.12:27068022 - 27638988 on Build GRCh38 | Gain | C12orf71 STK38L PPFIBP1 ARNTL2-AS1 ARNTL2 SMCO2 |
nsv436825 | Chr.12:27135971 - 27642579 on Build GRCh38 | Insertion | STK38L PPFIBP1 ARNTL2-AS1 ARNTL2 SMCO2 |
esv2745664 | Chr.12:27017516 - 27820117 on Build GRCh38 | Deletion | C12orf71 MED21 STK38L MRPS35 PPFIBP1 ARNTL2-AS1 MANSC4 KLHL42 REP15 ARNTL2 SMCO2 |
esv3628940 | Chr.12:27451350 - 27631744 on Build GRCh38 | Gain | PPFIBP1 SMCO2 |
nsv521872 | Chr.12:27114021 - 27635541 on Build GRCh38 | Gain | STK38L PPFIBP1 ARNTL2-AS1 ARNTL2 SMCO2 |
dgv271e199 | Chr.12:27089700 - 27631451 on Build GRCh38 | Deletion | STK38L PPFIBP1 ARNTL2-AS1 ARNTL2 SMCO2 |
More Information
Additional Information:
For this assay, SNP(s) [rs77159456] 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 |