Assay Details
Target Gene Details
Entrez Gene ID: | 8720 |
Gene Name: | membrane bound transcription factor peptidase, site 1 |
Gene Aliases: |
PCSK8, S1P, SKI-1 |
Location: |
Chr.16:84053761-84116943 on Build GRCh38 |
Assay Gene Location: | Within Intron 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBTPS1 | NM_003791.3 | NP_003782.1 | ||
XM_017023816.1 | XP_016879305.1 | |||
XM_017023817.1 | XP_016879306.1 | |||
AK091212.1 | ||||
AK291773.1 | ||||
AK299067.1 | ||||
AL133583.1 | CAB63727.1 | |||
BC114555.1 | AAI14556.1 | |||
BC114961.1 | AAI14962.1 | |||
BM048055.1 | ||||
D42053.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3639410 | Chr.16:84055831 - 84075312 on Build GRCh38 | Loss | MBTPS1 |
esv3892924 | Chr.16:84014717 - 84091665 on Build GRCh38 | Gain | SLC38A8 MBTPS1 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | LOC105371371 LOC729887 DNAAF1 OSGIN1 NECAB2 SLC38A8 KCNG4 MLYCD MBTPS1 ADAD2 TAF1C HSDL1 |
esv2761930 | Chr.16:84007420 - 84312461 on Build GRCh38 | Gain | LOC729887 DNAAF1 SLC38A8 KCNG4 LOC105376777 MBTPS1 ADAD2 TAF1C HSDL1 WFDC1 |
esv3892927 | Chr.16:84058861 - 84081674 on Build GRCh38 | Gain | MBTPS1 |
nsv1909 | Chr.16:84031468 - 84076703 on Build GRCh38 | Deletion | SLC38A8 MBTPS1 |
dgv546e214 | Chr.16:84011032 - 84095132 on Build GRCh38 | Gain | SLC38A8 MBTPS1 |
nsv457595 | Chr.16:84013110 - 84091665 on Build GRCh38 | Gain | SLC38A8 MBTPS1 |
nsv952061 | Chr.16:84049196 - 84062895 on Build GRCh38 | Deletion | MBTPS1 |
nsv1059227 | Chr.16:84029323 - 84233403 on Build GRCh38 | Loss | LOC729887 DNAAF1 SLC38A8 KCNG4 MBTPS1 ADAD2 TAF1C HSDL1 |
More Information
Additional Information:
For this assay, SNP(s) [rs114385235] 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 |