Hs03364865_cn

• Gene Symbol: SNRNP40
• Assay Reference Genome Location: Chr.1:31260967 on build GRCh38
• Cytoband: 1p35.2

Target Gene Details

• Entrez Gene ID: 9410
• Gene Name: small nuclear ribonucleoprotein U5 subunit 40
• Gene Aliases: 40K, HPRP8BP, PRP8BP, PRPF8BP, SPF38, WDR57
• Location: Chr.1:31259568-31296797 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRNP40	NM_004814.2			NP_004805.2
	AF090988.1			AAC69625.1
	AK074516.1
	AK123103.1
	AK298823.1
	AK313800.1
	AL157420.1			CAB75650.1
	BC001494.2			AAH01494.1
	EF011621.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3585645	Chr.1:31260563 - 31261042 on Build GRCh38	Loss	SNRNP40
nsv161067	Chr.1:31259127 - 31268295 on Build GRCh38	Deletion	SNRNP40
esv2758930	Chr.1:31209533 - 32000730 on Build GRCh38	Loss	NKAIN1 MIR4254 PTP4A2 SERINC2 HCRTR1 FABP3 ADGRB2 LINC01225 SPOCD1 PEF1 TINAGL1 ZCCHC17 COL16A1 SNRNP40 LINC01226

More Information

Additional Information:

For this assay, SNP(s) [rs116965476] 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

Gene Ontology Categories:

Process(es)

RNA splicing, via transesterification reactions
mRNA splicing, via spliceosome
RNA processing
RNA splicing

Function(s)

protein binding
poly(A) RNA binding