Hs02535355_cn

• Gene Symbol: SASS6
• Assay Reference Genome Location: Chr.1:100083714 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	3789	NP_001291758.1
	NM_194292.2	17	3869	NP_919268.1
	XM_017000486.1	17	3635	XP_016855975.1
	AK025750.1	5	2167
	AL834265.1	13	3132	CAD38940.1
	AY359522.1	17	3729	AAQ57128.1
	BX113339.1	1	181
	BX641109.1	16	3780
	BX648406.1	17	3626

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

centriole replication
centrosome duplication

Function(s)

protein binding