Assay Details
Target Gene Details
Entrez Gene ID: | 55304 |
Gene Name: | serine palmitoyltransferase long chain base subunit 3 |
Gene Aliases: |
C20orf38, LCB2B, LCB3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1, hLCB2b |
Location: |
Chr.20:13008979-13169103 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPTLC3 | NM_018327.2 | NP_060797.2 | ||
XM_011529279.1 | XP_011527581.1 | |||
XM_011529280.2 | XP_011527582.1 | |||
AK300184.1 | ||||
AL844429.1 | ||||
BC150644.1 | ||||
CX870585.1 |
Target Gene Details
Entrez Gene ID: | 55617 |
Gene Name: | taspase 1 |
Gene Aliases: |
C20orf13, dJ585I14.2 |
Location: |
Chr.20:13104760-13638936 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TASP1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833924 | Chr.20:13016445 - 13208592 on Build GRCh38 | Gain | SPTLC3 TASP1 |
dgv4247n100 | Chr.20:12748832 - 13357690 on Build GRCh38 | Gain | SPTLC3 TASP1 ISM1-AS1 ISM1 LOC100505515 LOC102606466 LOC101929486 |
esv3893288 | Chr.20:12763161 - 13331336 on Build GRCh38 | Gain | SPTLC3 TASP1 ISM1-AS1 ISM1 LOC100505515 LOC102606466 LOC101929486 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |