Hs03901585_cn

• Gene Symbol: SNRPN
• Assay Reference Genome Location: Chr.15:24860910 on build GRCh38
• Cytoband: 15q11.2

Target Gene Details

• Entrez Gene ID: 6638
• Gene Name: small nuclear ribonucleoprotein polypeptide N
• Gene Aliases: HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N
• Location: Chr.15:24823637-24978723 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPN	NM_022805.3			NP_073716.1
	NM_022806.3			NP_073717.1
	NM_022807.3			NP_073718.1
	NM_022808.3			NP_073719.1
	AK222633.1			BAD96353.1
	DA069028.1
	DA090878.1
	DA131564.1
	L80004.1
	L80005.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1045067	Chr.15:24792359 - 25083568 on Build GRCh38	Gain	SNRPN SNORD116-13 SNORD109A SNORD116-16 SNORD116@ PWARSN SNURF SNORD108 SNORD116-6 SNORD116-7 SNORD116-3 SNORD116-1 SNORD116-11 SNORD116-5 SNORD64 PWAR5 SNORD116-2 SNORD116-12 SNORD116-10 SNORD116-4 SNORD107 SNORD116-14 SNORD116-9 SNORD116-15 SNORD116-8
nsv568530	Chr.15:24540053 - 24862075 on Build GRCh38	Loss	SNRPN PWRN1 NPAP1 LOC105370733
nsv568533	Chr.15:24843068 - 24861936 on Build GRCh38	Loss	SNRPN
esv3581563	Chr.15:24843286 - 24874807 on Build GRCh38	Loss	SNRPN
esv2760019	Chr.15:24810131 - 24892816 on Build GRCh38	Loss	SNRPN
nsv516596	Chr.15:24847119 - 24869979 on Build GRCh38	Loss	SNRPN
nsv456730	Chr.15:24821213 - 24869979 on Build GRCh38	Loss	SNRPN

More Information

Additional Information:

For this assay, SNP(s) [rs141033927] 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 -

RNA splicing factor

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
RNA splicing
response to hormone

Function(s)

RNA binding
protein binding