Hs03916866_cn

• Gene Symbol: SNRPN
• Assay Reference Genome Location: Chr.15:24873203 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
esv2653478	Chr.15:24871455 - 24874547 on Build GRCh38	Deletion	SNRPN
dgv444e199	Chr.15:24864195 - 24874545 on Build GRCh38	Deletion	SNRPN
nsv512388	Chr.15:24870938 - 24873589 on Build GRCh38	Loss	SNRPN
esv2663597	Chr.15:24871843 - 24873586 on Build GRCh38	Deletion	SNRPN
nsv510656	Chr.15:24867370 - 24923526 on Build GRCh38	Deletion	SNRPN
esv1633915	Chr.15:24871846 - 24873589 on Build GRCh38	Deletion	SNRPN
dgv2473n100	Chr.15:24847119 - 24874807 on Build GRCh38	Loss	SNRPN
dgv1178n106	Chr.15:24871653 - 24873553 on Build GRCh38	Deletion	SNRPN
esv3552213	Chr.15:24871696 - 24873690 on Build GRCh38	Deletion	SNRPN
esv3635912	Chr.15:24871805 - 24873519 on Build GRCh38	Loss	SNRPN
nsv9199	Chr.15:24861811 - 24873253 on Build GRCh38	Loss	SNRPN
nsv1045067	Chr.15:24792359 - 25083568 on Build GRCh38	Gain	SNORD116-5 SNORD116-16 SNORD116-4 SNORD116-3 SNORD116-11 SNORD116-1 PWAR5 PWARSN SNRPN SNORD107 SNORD116-15 SNORD116-10 SNORD116@ SNORD116-12 SNORD116-6 SNORD116-8 SNORD108 SNURF SNORD64 SNORD116-9 SNORD116-14 SNORD116-7 SNORD109A SNORD116-13 SNORD116-2
nsv958799	Chr.15:24871783 - 24873496 on Build GRCh38	Deletion	SNRPN
esv3242679	Chr.15:24871982 - 24873724 on Build GRCh38	Deletion	SNRPN
esv3581563	Chr.15:24843286 - 24874807 on Build GRCh38	Loss	SNRPN
esv1000872	Chr.15:24869599 - 24875610 on Build GRCh38	Deletion	SNRPN
esv2760019	Chr.15:24810131 - 24892816 on Build GRCh38	Loss	SNRPN

More Information

Additional Information:

For this assay, SNP(s) [rs144050115,rs74324001] 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