Hs03333338_cn

• Gene Symbol: SNAP47
• Assay Reference Genome Location: Chr.1:227729352 on build GRCh38
• Cytoband: 1q42.13

Target Gene Details

• Entrez Gene ID: 116841
• Gene Name: synaptosome associated protein 47
• Gene Aliases: C1orf142, ESFI5812, HEL-S-290, HEL170, SNAP-47, SVAP1
• Location: Chr.1:227728168-227781231 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNAP47	NM_001323930.1			NP_001310859.1
	NM_001323932.1			NP_001310861.1
	NM_001323933.1			NP_001310862.1
	NR_136654.1
	XM_017000231.1			XP_016855720.1
	XM_017000232.1			XP_016855721.1
	AK055266.1
	AK093736.1
	BC032775.1			AAH32775.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1007479	Chr.1:227508167 - 227796765 on Build GRCh38	Gain	SNAP47 ZNF678 JMJD4 LOC105373289
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	TRIM11 HIST3H2BB C1orf145 WNT3A LOC107985355 OBSCN LOC105373289 MIR3620 TRIM17 LOC101060022 HIST3H3 MIR4666A MRPL55 GJC2 WNT9A LOC101927401 IBA57-AS1 SNAP47 IBA57 ARF1 C1orf35 HIST3H2A PRSS38 GUK1 MIR6742 MIR5008 LOC100506571 RNF187 JMJD4
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	TRIM11 C1orf145 RNA5S15 WNT3A LOC107985355 BTNL10 OBSCN TRIM17 LOC101060022 MIR4666A MRPL55 GJC2 RNA5S6 WNT9A LOC101927401 RNA5S17 RNA5S16 C1orf35 HIST3H2A RNA5S11 GUK1 MIR6742 MIR5008 DUSP5P1 RNA5S5 JMJD4 RNA5S2 HIST3H2BB RNA5S14 RNA5S13 RNA5S1 LOC105373289 MIR3620 HIST3H3 RNA5S7 RHOU RNA5S9 RNA5S10 RNA5S4 LOC105373132 IBA57-AS1 SNAP47 IBA57 ARF1 RNA5S3 PRSS38 RNA5S8 LOC100506571 RNA5S12 RNF187
nsv515496	Chr.1:227724773 - 227780237 on Build GRCh38	Loss	SNAP47 JMJD4
nsv945344	Chr.1:227712238 - 227730075 on Build GRCh38	Duplication	SNAP47

More Information

Additional Information:

For this assay, SNP(s) [rs79499899] 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 -

SNARE protein

Gene Ontology Categories:

Process(es)

synaptic vesicle priming
synaptic vesicle fusion to presynaptic active zone membrane
long-term synaptic potentiation

Function(s)

SNAP receptor activity
protein binding
syntaxin binding