Hs04460410_cn

• Gene Symbol: DNAAF1
• Assay Reference Genome Location: Chr.16:84146291 on build GRCh38
• Cytoband: 16q24.1

Target Gene Details

• Entrez Gene ID: 123872
• Gene Name: dynein axonemal assembly factor 1
• Gene Aliases: CILD13, LRRC50, ODA7
• Location: Chr.16:84145260-84178761 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DNAAF1	NM_178452.5			NP_848547.4
	XM_006721129.2			XP_006721192.1
	XM_011522853.2			XP_011521155.1
	XM_011522854.2			XP_011521156.1
	XM_011522855.2			XP_011521157.1
	XM_011522857.2			XP_011521159.1
	XM_011522858.2			XP_011521160.1
	XM_017022918.1			XP_016878407.1
	XM_017022919.1			XP_016878408.1
	AK057238.1			BAB71392.1
	AK310961.1
	AL833327.1
	AL833328.1			CAH10390.1
	AL833336.1			CAH10394.1
	BC024009.2			AAH24009.3
	BX648657.1
	DA349893.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833309	Chr.16:84076867 - 84248591 on Build GRCh38	Loss	MBTPS1 ADAD2 LOC729887 KCNG4 DNAAF1 TAF1C HSDL1
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	NECAB2 MBTPS1 ADAD2 OSGIN1 LOC729887 SLC38A8 MLYCD KCNG4 DNAAF1 TAF1C HSDL1 LOC105371371
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	MBTPS1 ADAD2 LOC729887 SLC38A8 KCNG4 WFDC1 DNAAF1 TAF1C LOC105376777 HSDL1
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	MBTPS1 ADAD2 LOC729887 SLC38A8 KCNG4 DNAAF1 TAF1C HSDL1

More Information

Additional Information:

For this assay, SNP(s) [rs74659559] 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 -

protein-binding activity modulator, phosphatase modulator

Gene Ontology Categories:

Process(es)

heart looping
cilium movement
regulation of cilium beat frequency
lung development
determination of pancreatic left/right asymmetry
outer dynein arm assembly
inner dynein arm assembly
motile cilium assembly
cilium morphogenesis
epithelial cilium movement involved in determination of left/right asymmetry
left/right pattern formation
axonemal dynein complex assembly
determination of digestive tract left/right asymmetry
determination of liver left/right asymmetry

Function(s)

dynein binding