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 |
![]() ![]() ![]() ![]() |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
nsv515496 | Chr.1:227724773 - 227780237 on Build GRCh38 | Loss |
![]() ![]() |
nsv945344 | Chr.1:227712238 - 227730075 on Build GRCh38 | Duplication |
![]() |
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Additional Information:
For this assay, SNP(s) [rs79499899] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
![]() ![]() ![]() ![]() |
Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)