Assay Details
Target Gene Details
Entrez Gene ID: | 4054 |
Gene Name: | latent transforming growth factor beta binding protein 3 |
Gene Aliases: |
DASS, LTBP-3, LTBP2, STHAG6, pp6425 |
Location: |
Chr.11:65538559-65558388 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LTBP3 | NM_001130144.2 | 22 | 3290 | NP_001123616.1 |
NM_001164266.1 | 22 | 3286 | NP_001157738.1 | |
NM_021070.4 | 22 | 3290 | NP_066548.2 | |
XM_011545032.2 | 22 | 3472 | XP_011543334.1 | |
XM_011545033.2 | 22 | 3471 | XP_011543335.1 | |
AF135960.3 | 22 | 3021 | AAF62352.3 | |
AF318354.1 | 20 | 2322 | AAL55861.1 | |
AK024477.1 | 22 | 3287 | ||
AK090750.1 | 7 | 927 | ||
AK097212.1 | 7 | 1236 | ||
AK124524.1 | 11 | 2354 | ||
AK126126.1 | 5 | 1048 | ||
AK298858.1 | 17 | 1972 | ||
AK299351.1 | 23 | 2952 | ||
AL117551.1 | 6 | 645 | CAB55988.1 | |
BC008761.2 | 13 | 1483 | AAH08761.2 | |
BC136277.1 | 22 | 3096 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2671903 | Chr.11:65538274 - 65540821 on Build GRCh38 | Deletion | LTBP3 SCYL1 |
nsv951018 | Chr.11:65525430 - 65662029 on Build GRCh38 | Deletion | PCNX3 LTBP3 MIR4690 MIR4489 EHBP1L1 SCYL1 SSSCA1-AS1 KCNK7 SIPA1 SSSCA1 MAP3K11 FAM89B RELA |
More Information
Additional Information:
For this assay, SNP(s) [rs151139557] 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 Exonic DGV Variation |