Hs04066039_cn

• Gene Symbol: SPATC1L
• Assay Reference Genome Location: Chr.21:46184962 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 84221
• Gene Name: spermatogenesis and centriole associated 1-like
• Gene Aliases: C21orf56
• Location: Chr.21:46161148-46185159 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATC1L	XM_005261188.4	1	198	XP_005261245.1
	XM_017028480.1	1	198	XP_016883969.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519904	Chr.21:46163592 - 46461396 on Build GRCh38	Loss	DIP2A MCM3AP YBEY PCNT LSS MCM3AP-AS1 SPATC1L C21orf58
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	FTCD LSS COL6A2 SPATC1L
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	MCM3AP FTCD LSS PCBP3 COL6A1 COL6A2 MCM3AP-AS1 SPATC1L LOC101928796
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	MCM3AP FTCD DIP2A-IT1 LOC101928796 DIP2A PRMT2 YBEY PCNT LSS PCBP3 COL6A1 COL6A2 MCM3AP-AS1 S100B SPATC1L C21orf58
esv3424921	Chr.21:46184468 - 46185063 on Build GRCh38	Duplication	SPATC1L
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	MCM3AP FTCD YBEY PCNT LSS COL6A2 MCM3AP-AS1 SPATC1L C21orf58

More Information

Additional Information:

For this assay, SNP(s) [rs78897629] 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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

molecular_function
protein binding