Assay Details
Target Gene Details
Entrez Gene ID: | 92291 |
Gene Name: | calpain 13 |
Gene Aliases: |
- |
Location: |
Chr.2:30610382-30809527 on Build GRCh38 |
Assay Gene Location: | Within Exon 28 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CAPN13 | XM_017005265.1 | 23 | 3139 | XP_016860754.1 |
Target Gene Details
Entrez Gene ID: | 253558 |
Gene Name: | lysocardiolipin acyltransferase 1 |
Gene Aliases: |
1AGPAT8, AGPAT8, ALCAT1, HSRG1849, LYCAT, UNQ1849 |
Location: |
Chr.2:30447226-30644225 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LCLAT1 | NM_001002257.2 | NP_001002257.1 | ||
NM_001304445.1 | NP_001291374.1 | |||
NM_001304446.1 | NP_001291375.1 | |||
NM_182551.4 | NP_872357.2 | |||
XM_005264244.1 | XP_005264301.1 | |||
XM_005264245.3 | XP_005264302.1 | |||
XM_011532741.2 | XP_011531043.1 | |||
XM_011532742.2 | XP_011531044.1 | |||
XM_011532743.2 | XP_011531045.1 | |||
XM_011532744.2 | XP_011531046.1 | |||
XM_017003746.1 | XP_016859235.1 | |||
AK296965.1 | ||||
AK297262.1 | ||||
AK302562.1 | ||||
AK311294.1 | ||||
AY358702.1 | AAQ89065.1 | |||
BC146817.1 | ||||
BX647953.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2762445 | Chr.2:30592132 - 30626477 on Build GRCh38 | Loss | LCLAT1 CAPN13 |
esv3590201 | Chr.2:30589923 - 30627405 on Build GRCh38 | Loss | LCLAT1 CAPN13 |
nsv1003432 | Chr.2:30592120 - 30626477 on Build GRCh38 | Loss | LCLAT1 CAPN13 |
dgv689e199 | Chr.2:30589882 - 30627418 on Build GRCh38 | Deletion | LCLAT1 CAPN13 |
esv3583706 | Chr.2:30592119 - 30626734 on Build GRCh38 | Loss | LCLAT1 CAPN13 |
More Information
Additional Information:
For this assay, SNP(s) [rs76266203] 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 Intronic Non-exonic DGV Variation |