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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMCO2 | NM_001145010.1 | NP_001138482.1 | ||
XM_011520634.2 | XP_011518936.1 | |||
XM_011520635.2 | XP_011518937.1 | |||
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 |
---|---|---|---|
nsv1052330 | Chr.12:27482662 - 27506809 on Build GRCh38 | Gain | SMCO2 |
dgv1406n100 | Chr.12:27128236 - 27640822 on Build GRCh38 | Gain | SMCO2 ARNTL2 PPFIBP1 ARNTL2-AS1 STK38L |
dgv2417n54 | Chr.12:27068022 - 27638988 on Build GRCh38 | Gain | SMCO2 ARNTL2 PPFIBP1 ARNTL2-AS1 C12orf71 STK38L |
nsv436825 | Chr.12:27135971 - 27642579 on Build GRCh38 | Insertion | SMCO2 ARNTL2 PPFIBP1 ARNTL2-AS1 STK38L |
dgv24e203 | Chr.12:27487981 - 27506821 on Build GRCh38 | Loss | SMCO2 |
dgv36n17 | Chr.12:27486051 - 27506870 on Build GRCh38 | Loss | SMCO2 |
esv2745664 | Chr.12:27017516 - 27820117 on Build GRCh38 | Deletion | KLHL42 SMCO2 ARNTL2 PPFIBP1 MANSC4 MRPS35 ARNTL2-AS1 MED21 C12orf71 REP15 STK38L |
nsv437732 | Chr.12:27475809 - 27502467 on Build GRCh38 | Loss | SMCO2 |
nsv438198 | Chr.12:27488540 - 27489609 on Build GRCh38 | Loss | SMCO2 |
esv3628940 | Chr.12:27451350 - 27631744 on Build GRCh38 | Gain | SMCO2 PPFIBP1 |
nsv521872 | Chr.12:27114021 - 27635541 on Build GRCh38 | Gain | SMCO2 ARNTL2 PPFIBP1 ARNTL2-AS1 STK38L |
dgv271e199 | Chr.12:27089700 - 27631451 on Build GRCh38 | Deletion | SMCO2 ARNTL2 PPFIBP1 ARNTL2-AS1 STK38L |
More Information
Additional Information:
For this assay, SNP(s) [rs78109269] 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 |