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