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See other JMJD4 CNV Assays ›
Gene Symbol
JMJD4
Assay Reference Genome
Location

Chr.1:227735504 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00683846_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:

65094

Gene Name:

jumonji domain containing 4

Gene Aliases:

-

Location:

Chr.1:227731189-227735423 on Build GRCh38

Assay Gene Location:

Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
JMJD4 XM_011544262.2 XP_011542564.1

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 4 - Intron 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SNAP47 NM_001323930.1 NP_001310859.1
NM_001323931.1 NP_001310860.1
NM_001323932.1 NP_001310861.1
NM_001323933.1 NP_001310862.1
NM_001323935.1 NP_001310864.1
NM_053052.3 NP_444280.2
NR_136654.1
NR_136655.1
NR_136656.1
NR_136657.1
XM_017000231.1 XP_016855720.1
XM_017000232.1 XP_016855721.1
AK054633.1 BAB70779.1
AY090635.2 AAM09082.1
BC007786.2 AAH07786.2
BC011145.1 AAH11145.1
BC018760.1 AAH18760.2
BC032775.1 AAH32775.1
BX648570.1 CAI45994.1
GQ472206.1

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

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More Information


Additional Information:

For this assay, SNP(s) [rs148036666] 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 Non-exonic DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme SNARE protein

Gene Ontology Categories:

Function(s) Process(es)

synaptic vesicle priming
synaptic vesicle fusion to presynaptic active zone membrane
long-term synaptic potentiation
protein binding
SNAP receptor activity
syntaxin binding

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