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