Hs03060489_cn

• Gene Symbol: ARL13B
• Assay Reference Genome Location: Chr.3:94015236 on build GRCh38
• Cytoband: 3q11.2

Target Gene Details

• Entrez Gene ID: 200894
• Gene Name: ADP ribosylation factor like GTPase 13B
• Gene Aliases: ARL2L1, JBTS8
• Location: Chr.3:93980139-94055678 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARL13B	NM_001174150.1			NP_001167621.1
	NM_001174151.1			NP_001167622.1
	NM_001321328.1			NP_001308257.1
	NM_144996.3			NP_659433.2
	NM_182896.2			NP_878899.1
	NR_033427.1
	NR_135621.1
	XM_006713532.3			XP_006713595.1
	XM_011512532.2			XP_011510834.1
	XM_011512533.2			XP_011510835.1
	XM_011512534.2			XP_011510836.1
	XM_011512535.2			XP_011510837.1
	XM_017005853.1			XP_016861342.1
	AK296994.1
	AK299284.1
	AL713789.1			CAD28544.2
	BC094725.1			AAH94725.1
	BC104035.1			AAI04036.1
	BC104036.1			AAI04037.1
	BG705058.1
	CR936753.1
	CR936756.1
	CR936763.1

Target Gene Details

• Entrez Gene ID: 415117
• Gene Name: syntaxin 19
• Gene Aliases: -
• Location: Chr.3:94014365-94029281 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STX19	NM_001001850.2	2	291	NP_001001850.1
	XM_011512842.2	3	1022	XP_011511144.1
	AF461456.1			AAQ04780.1
	BC034696.1	2	291	AAH34696.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4814n100	Chr.3:93800622 - 94025077 on Build GRCh38	Gain	STX19 LOC107986037 PROS1 ARL13B
nsv590987	Chr.3:93989976 - 94060820 on Build GRCh38	Loss	STX19 DHFR2 ARL13B
esv3893746	Chr.3:93792469 - 94164796 on Build GRCh38	Loss	STX19 LOC107986037 PROS1 DHFR2 ARL13B NSUN3

More Information

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

Panther Classification:

Molecular Function -

SNARE protein

Gene Ontology Categories:

Process(es)

heart looping
smoothened signaling pathway
small GTPase mediated signal transduction
dorsal/ventral pattern formation
neural tube patterning
interneuron migration from the subpallium to the cortex
formation of radial glial scaffolds
nonmotile primary cilium assembly
cilium assembly
left/right axis specification
intracellular protein transport
synaptic vesicle fusion to presynaptic active zone membrane
vesicle docking

Function(s)

protein binding
GTP binding
SNARE binding
SNAP receptor activity