Hs01930265_cn

• Gene Symbol: CLNS1A
• Assay Reference Genome Location: Chr.11:77616316 on build GRCh38
• Cytoband: 11q14.1

Target Gene Details

• Entrez Gene ID: 1207
• Gene Name: chloride nucleotide-sensitive channel 1A
• Gene Aliases: CLCI, CLNS1B, ICln
• Location: Chr.11:77616151-77637806 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLNS1A	NM_001293.2	7	1208	NP_001284.1
	NM_001311200.1	6	1106	NP_001298129.1
	NM_001311201.1	6	1034	NP_001298130.1
	NM_001311202.1	5	998	NP_001298131.1
	AA757599.1	1	171
	AF005422.1	7	1146	AAB61444.1
	BC119634.1
	BC119635.1
	BU538016.1
	U17899.1	7	1190	AAC50111.1
	U53454.1	7	1200	AAB03316.1
	X91788.1	7	1204	CAA62902.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1234n100	Chr.11:77572991 - 77724786 on Build GRCh38	Gain	AQP11 LOC646029 RSF1 CLNS1A LOC107987163
nsv468641	Chr.11:77590296 - 77709269 on Build GRCh38	Gain	AQP11 RSF1 CLNS1A LOC107987163
esv3626888	Chr.11:77610862 - 77622595 on Build GRCh38	Loss	CLNS1A LOC107987163

More Information

Additional Information:

For this assay, SNP(s) [rs79950774] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly
chloride transport
cell volume homeostasis

Function(s)

protein binding
poly(A) RNA binding
protein heterodimerization activity