Hs02918062_cn

• Gene Symbol: SASS6
• Assay Reference Genome Location: Chr.1:100107867 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 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SASS6	NM_001304829.1	8	1200	NP_001291758.1
	NM_194292.2	9	1280	NP_919268.1
	XM_017000486.1	9	1046	XP_016855975.1
	AK302513.1	10	1030
	AK307824.1	8	1067
	AL834265.1	5	543	CAD38940.1
	AY359522.1	9	1140	AAQ57128.1
	BC101026.3	8	993	AAI01027.1
	BX641109.1	9	1099
	BX648406.1	9	1036

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv1008570	Chr.1:100107536 - 100108031 on Build GRCh38	Gain	SASS6
nsv830804	Chr.1:100036777 - 100210481 on Build GRCh38	Gain	MFSD14A LRRC39 DBT SASS6 TRMT13

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

centriole replication
centrosome duplication

Function(s)

protein binding