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 1 |
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_017027922.1 | XP_016883411.1 | |||
AK001974.1 | BAA92012.1 | |||
AK300184.1 | ||||
BC005205.1 | ||||
BC020656.1 | AAH20656.1 | |||
BC150644.1 | ||||
CF994231.1 |
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 | ISM1 LOC100505515 SPTLC3 TASP1 ISM1-AS1 LOC101929486 LOC102606466 |
esv3893288 | Chr.20:12763161 - 13331336 on Build GRCh38 | Gain | ISM1 LOC100505515 SPTLC3 TASP1 ISM1-AS1 LOC101929486 LOC102606466 |
nsv833923 | Chr.20:12924041 - 13083778 on Build GRCh38 | Gain+Loss | LOC100505515 SPTLC3 LOC101929486 LOC102606466 |
More Information
Additional Information:
For this assay, SNP(s) [rs79892167] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |