Hs03370126_cn

• Gene Symbol: SNAP47
• Assay Reference Genome Location: Chr.1:227728202 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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNAP47	NM_001323933.1			NP_001310862.1

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

More Information

• Set Membership: Intragenic, 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