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: | Overlaps Intron 11 - Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LSS | NM_001001438.2 | NP_001001438.1 | ||
NM_001145436.1 | NP_001138908.1 | |||
NM_001145437.1 | NP_001138909.1 | |||
NM_002340.5 | NP_002331.3 | |||
XM_006724004.3 | XP_006724067.1 | |||
XM_011529564.2 | XP_011527866.1 | |||
XM_011529565.1 | XP_011527867.1 | |||
XM_011529566.2 | XP_011527868.1 | |||
XM_011529567.2 | XP_011527869.1 | |||
XM_017028346.1 | XP_016883835.1 | |||
XM_017028347.1 | XP_016883836.1 | |||
XM_017028348.1 | XP_016883837.1 | |||
AK098352.1 | BAC05289.1 | |||
AK226141.1 | ||||
AK296313.1 | ||||
AK312489.1 | ||||
BC035638.1 | AAH35638.1 | |||
D63807.1 | BAA09875.1 | |||
S81221.1 | AAB36220.1 | |||
X87809.1 | CAA61078.1 |
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 | LSS MCM3AP SPATC1L C21orf58 DIP2A YBEY PCNT MCM3AP-AS1 |
nsv1061087 | Chr.21:46056174 - 46223305 on Build GRCh38 | Loss | LSS COL6A2 SPATC1L FTCD |
nsv509804 | Chr.21:45879599 - 46235140 on Build GRCh38 | Insertion | LSS MCM3AP PCBP3 COL6A2 SPATC1L COL6A1 FTCD LOC101928796 MCM3AP-AS1 |
nsv1062031 | Chr.21:46188666 - 46223305 on Build GRCh38 | Gain | LSS |
nsv3546 | Chr.21:46198359 - 46229316 on Build GRCh38 | Insertion | LSS MCM3AP-AS1 |
nsv470910 | Chr.21:45933861 - 46665076 on Build GRCh38 | Gain | MCM3AP PCBP3 C21orf58 FTCD LSS COL6A2 SPATC1L COL6A1 PRMT2 DIP2A-IT1 DIP2A S100B YBEY PCNT LOC101928796 MCM3AP-AS1 |
nsv1060978 | Chr.21:46068159 - 46413726 on Build GRCh38 | Gain | LSS MCM3AP COL6A2 SPATC1L C21orf58 FTCD YBEY PCNT MCM3AP-AS1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |