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See other CAPN13 CNV Assays ›
Gene Symbol
CAPN13
Assay Reference Genome
Location

Chr.2:30611064 on build GRCh38
Cytoband
2p23.1
Assay ID Hs04666907_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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

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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

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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