Assay Details
Target Gene Details
Entrez Gene ID: | 157869 |
Gene Name: | somatomedin B and thrombospondin type 1 domain containing |
Gene Aliases: |
C8orf84, RPESP |
Location: |
Chr.8:73063077-73093272 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SBSPON | NM_153225.3 | NP_694957.3 | ||
XM_017013145.1 | XP_016868634.1 | |||
AK292970.1 | ||||
AY040546.1 | AAK83466.1 | |||
BC042877.1 | AAH42877.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2737154 | Chr.8:71825978 - 73469084 on Build GRCh38 | Deletion | SBSPON RDH10-AS1 STAU2 RDH10 RPL7 TERF1 MSC-AS1 STAU2-AS1 C8orf89 MSC LOC392232 KCNB2 LOC101926908 TRPA1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |