Hs03899657_cn

• Gene Symbol: SNRPN
• Assay Reference Genome Location: Chr.15:24824747 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNRPN	NM_022806.3			NP_073717.1
	NM_022807.3			NP_073718.1
	NM_022808.3			NP_073719.1
	DA069028.1
	DA131564.1
	L80005.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv514771	Chr.15:24824386 - 24837354 on Build GRCh38	Loss	SNRPN
dgv2470n100	Chr.15:24813443 - 24839687 on Build GRCh38	Loss	SNRPN
nsv1045067	Chr.15:24792359 - 25083568 on Build GRCh38	Gain	SNORD116-6 SNORD116-13 SNORD116-12 SNORD64 SNORD109A SNORD116-2 SNORD116-9 SNORD116-1 SNURF SNORD116-10 SNORD116-5 SNORD116-3 PWARSN SNORD116-16 SNORD108 PWAR5 SNRPN SNORD116-15 SNORD116@ SNORD107 SNORD116-11 SNORD116-7 SNORD116-8 SNORD116-4 SNORD116-14
nsv442365	Chr.15:24824404 - 24839699 on Build GRCh38	Loss	SNRPN
esv2678343	Chr.15:24820390 - 24839871 on Build GRCh38	Deletion	SNRPN
nsv568530	Chr.15:24540053 - 24862075 on Build GRCh38	Loss	NPAP1 PWRN1 LOC105370733 SNRPN
nsv9197	Chr.15:24819345 - 24846482 on Build GRCh38	Loss	SNRPN
esv2760389	Chr.15:24819264 - 24840523 on Build GRCh38	Loss	SNRPN
esv2760019	Chr.15:24810131 - 24892816 on Build GRCh38	Loss	SNRPN
esv2674507	Chr.15:24581670 - 24829497 on Build GRCh38	Deletion	NPAP1 PWRN1 SNRPN
nsv817675	Chr.15:24821213 - 24833640 on Build GRCh38	Loss	SNRPN
dgv2472n100	Chr.15:24824408 - 24840511 on Build GRCh38	Loss	SNRPN

More Information

Additional Information:

For this assay, SNP(s) [rs74005356] 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