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