Assay Details
Target Gene Details
Entrez Gene ID: | 4047 |
Gene Name: | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) |
Gene Aliases: |
CTRCT44, OSC |
Location: |
Chr.21:46188446-46228824 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LSS | NM_001001438.2 | 23 | 2541 | NP_001001438.1 |
XM_011529565.1 | 23 | 2557 | XP_011527867.1 | |
XM_017028346.1 | 23 | 2527 | XP_016883835.1 | |
XM_017028347.1 | 23 | 2448 | XP_016883836.1 | |
XM_017028348.1 | 22 | 2461 | XP_016883837.1 | |
AK096769.1 | 3 | 2268 | BAC04859.1 | |
BU728696.1 | 1 | 165 | ||
D63807.1 | 23 | 2480 | BAA09875.1 | |
S81221.1 | 23 | 2480 | AAB36220.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519904 | Chr.21:46163592 - 46461396 on Build GRCh38 | Loss | DIP2A MCM3AP-AS1 C21orf58 LSS MCM3AP PCNT SPATC1L YBEY |
nsv1061087 | Chr.21:46056174 - 46223305 on Build GRCh38 | Loss | LSS COL6A2 SPATC1L FTCD |
nsv509804 | Chr.21:45879599 - 46235140 on Build GRCh38 | Insertion | MCM3AP-AS1 LSS MCM3AP COL6A2 LOC101928796 COL6A1 PCBP3 SPATC1L FTCD |
nsv470910 | Chr.21:45933861 - 46665076 on Build GRCh38 | Gain | DIP2A MCM3AP-AS1 C21orf58 PRMT2 PCNT COL6A2 LOC101928796 PCBP3 DIP2A-IT1 LSS MCM3AP S100B COL6A1 SPATC1L YBEY FTCD |
nsv1060978 | Chr.21:46068159 - 46413726 on Build GRCh38 | Gain | MCM3AP-AS1 C21orf58 LSS MCM3AP PCNT COL6A2 SPATC1L YBEY FTCD |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |