Hs00710686_cn

• Gene Symbol: SASS6
• Assay Reference Genome Location: Chr.1:100085573 on build GRCh38
• Cytoband: 1p21.2

Target Gene Details

• Entrez Gene ID: 163786
• Gene Name: SAS-6 centriolar assembly protein
• Gene Aliases: MCPH14, SAS-6, SAS6
• Location: Chr.1:100082632-100133095 on Build GRCh38
• Assay Gene Location: Overlaps Intron 17 - Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SASS6	NM_001304829.1			NP_001291758.1
	NM_194292.2			NP_919268.1
	XM_017000486.1			XP_016855975.1
	AK025750.1
	AK302513.1
	AK307824.1
	AL834265.1			CAD38940.1
	AY359522.1			AAQ57128.1
	BC101026.3			AAI01027.1
	BX641109.1
	BX648406.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830804	Chr.1:100036777 - 100210481 on Build GRCh38	Gain	SASS6 LRRC39 MFSD14A DBT TRMT13

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

centriole replication
centrosome duplication

Function(s)

protein binding