Hs01701024_cn

• Gene Symbol: CRTAP
• Assay Reference Genome Location: Chr.3:33124431 on build GRCh38
• Cytoband: 3p22.3

Target Gene Details

• Entrez Gene ID: 10491
• Gene Name: cartilage associated protein
• Gene Aliases: CASP, LEPREL3, OI7, P3H5
• Location: Chr.3:33113958-33147773 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRTAP	NM_006371.4			NP_006362.1
	AJ006470.1			CAA07054.1
	AK001634.1
	AK075401.1
	AK091772.1			BAC03743.1
	AK092990.1
	AK097650.1
	AK126433.1
	AK298250.1
	AK314719.1
	BC008745.2			AAH08745.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1003285	Chr.3:31386933 - 33172886 on Build GRCh38	Gain	CNOT10 CMTM8 CMTM7 CRTAP GLB1 LOC105377021 SUSD5 CCR4 GPD1L CMTM6 MIR548AY OSBPL10-AS1 DYNC1LI1 STT3B ZNF860 TMPPE TRIM71 LOC105377022 OSBPL10

More Information

Additional Information:

For this assay, SNP(s) [rs146124454] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

spermatogenesis
peptidyl-proline hydroxylation to 3-hydroxy-L-proline
protein stabilization
chaperone-mediated protein folding
negative regulation of post-translational protein modification

Function(s)

protein complex binding