Hs03047579_cn

• Gene Symbol: SASS6
• Assay Reference Genome Location: Chr.1:100084747 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: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SASS6	NM_001304829.1	16	2756	NP_001291758.1
	NM_194292.2	17	2836	NP_919268.1
	XM_017000486.1	17	2602	XP_016855975.1
	AK025750.1	5	1134
	AL834265.1	13	2099	CAD38940.1
	AY359522.1	17	2696	AAQ57128.1
	BX641109.1	16	2747
	BX648406.1	17	2593

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	TRMT13 LRRC39 SASS6 MFSD14A DBT
nsv546888	Chr.1:99954311 - 100084889 on Build GRCh38	Loss	SLC35A3 SASS6 MFSD14A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

centriole replication
centrosome duplication

Function(s)

protein binding