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