Hs04084400_cn

• Gene Symbol: TUBA8
• Assay Reference Genome Location: Chr.22:18111442 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 51807
• Gene Name: tubulin alpha 8
• Gene Aliases: TUBAL2
• Location: Chr.22:18110687-18131731 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TUBA8	NM_001193414.1			NP_001180343.1
	NM_018943.2			NP_061816.1
	AJ245922.1			CAB88036.1
	AK056947.1
	AK315316.1
	BC074827.2			AAH74827.1
	BC104845.1			AAI04846.1
	CR456600.1			CAG30486.1
	DA059342.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055756	Chr.22:18062621 - 18794021 on Build GRCh38	Gain	PI4KAP1 USP18 TMEM191B LOC729461 TUBA8 RIMBP3 FAM230A PEX26 GGT3P LOC100996401 LOC100996415 LOC642643
nsv1058565	Chr.22:18060494 - 18159378 on Build GRCh38	Gain	USP18 TUBA8 PEX26
nsv1057188	Chr.22:18083522 - 18141992 on Build GRCh38	Gain	TUBA8 PEX26
esv3893430	Chr.22:18059545 - 18169093 on Build GRCh38	Gain	USP18 TUBA8 PEX26
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	USP18 DGCR6 DGCR10 PRODH LOC729461 DGCR5 TUBA8 GGT3P LOC100996401 PI4KAP1 DGCR11 TMEM191B DGCR9 LOC100996432 LOC102725072 RIMBP3 FAM230A PEX26 DGCR2 LOC100996415 LOC642643
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	USP18 MIR648 LOC729461 GGT3P PI4KAP1 LOC100996432 LOC102725072 CECR2 FAM230A PEX26 ATP6V1E1 LOC100996415 LINC00528 TUBA8 BID BCL2L13 LOC100996401 LOC101929372 FLJ41941 TMEM191B SLC25A18 RIMBP3 MIR3198-1 LOC642643 MICAL3
nsv471594	Chr.22:18076012 - 18882129 on Build GRCh38	Gain+Loss	USP18 LOC729461 TUBA8 GGT3P LOC100996401 PI4KAP1 TMEM191B LOC100996432 LOC102725072 RIMBP3 FAM230A PEX26 LOC100996415 LOC642643
nsv469560	Chr.22:18076011 - 18213970 on Build GRCh38	Gain	USP18 TUBA8 PEX26 LOC100996415

More Information

Additional Information:

For this assay, SNP(s) [rs142387067] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

tubulin

Gene Ontology Categories:

Process(es)

cytoskeleton organization
microtubule-based process

Function(s)

GTPase activity
structural constituent of cytoskeleton
GTP binding