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