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 6 |
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_001323934.1 | NP_001310863.1 | |||
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_006711734.3 | XP_006711797.1 | |||
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 | JMJD4 LOC105373289 SNAP47 ZNF678 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | JMJD4 HIST3H2BB WNT3A RNF187 LOC101927401 LOC100506571 MIR6742 MIR3620 ARF1 HIST3H3 GUK1 MIR4666A TRIM17 MRPL55 LOC105373289 IBA57 C1orf145 C1orf35 TRIM11 PRSS38 IBA57-AS1 GJC2 SNAP47 LOC101060022 MIR5008 WNT9A LOC107985355 OBSCN HIST3H2A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S13 RNA5S17 RNF187 MIR6742 RNA5S3 RNA5S1 HIST3H3 RNA5S6 MRPL55 LOC105373289 C1orf145 C1orf35 WNT9A LOC107985355 LOC105373132 HIST3H2A RHOU RNA5S12 JMJD4 HIST3H2BB WNT3A LOC101927401 LOC100506571 RNA5S10 MIR3620 ARF1 GUK1 MIR4666A TRIM17 RNA5S7 RNA5S16 IBA57 RNA5S8 RNA5S9 TRIM11 PRSS38 RNA5S14 RNA5S11 RNA5S5 IBA57-AS1 GJC2 DUSP5P1 SNAP47 RNA5S15 RNA5S4 LOC101060022 MIR5008 RNA5S2 OBSCN BTNL10 |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss | JMJD4 SNAP47 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |