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 Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SBSPON | NM_153225.3 | 5 | 1141 | NP_694957.3 |
XM_017013145.1 | 5 | 1386 | XP_016868634.1 | |
AK292970.1 | 5 | 1041 | ||
AY040546.1 | AAK83466.1 | |||
BC042877.1 | 5 | 1141 | AAH42877.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2517224 | Chr.8:73067181 - 73068118 on Build GRCh38 | Insertion | SBSPON |
esv2737154 | Chr.8:71825978 - 73469084 on Build GRCh38 | Deletion | RDH10 TERF1 LOC392232 LOC101926908 STAU2-AS1 MSC-AS1 KCNB2 STAU2 TRPA1 RPL7 RDH10-AS1 MSC SBSPON C8orf89 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |