Assay Details
Target Gene Details
Entrez Gene ID: | 377841 |
Gene Name: | ectonucleoside triphosphate diphosphohydrolase 8 |
Gene Aliases: |
E-NTPDase, GLSR2492, NTPDase-8, UNQ2492 |
Location: |
Chr.9:137434364-137441710 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ENTPD8 | NM_001033113.1 | NP_001028285.1 | ||
NM_198585.2 | NP_940987.2 | |||
XM_011518665.2 | XP_011516967.1 | |||
XM_011518666.2 | XP_011516968.1 | |||
XM_011518668.1 | XP_011516970.1 | |||
AY359088.1 | AAQ89446.1 | |||
BC141810.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv616021 | Chr.9:137434689 - 137452821 on Build GRCh38 | Loss | NSMF MIR7114 ENTPD8 |
nsv951208 | Chr.9:137379349 - 137467948 on Build GRCh38 | Deletion | NSMF EXD3 PNPLA7 NOXA1 MIR7114 ENTPD8 |
nsv6771 | Chr.9:137412670 - 137444666 on Build GRCh38 | Insertion | EXD3 NOXA1 ENTPD8 |
esv2759721 | Chr.9:137303332 - 137447299 on Build GRCh38 | Loss | EXD3 NOXA1 ENTPD8 |
nsv524322 | Chr.9:136795692 - 137482216 on Build GRCh38 | Loss | EXD3 CLIC3 TMEM210 TMEM203 PNPLA7 TRAF2 MAN1B1-AS1 ANAPC2 MIR7114 STPG3 NRARP MIR4292 CCDC183-AS1 NSMF C9orf139 CCDC183 FBXW5 TOR4A MIR4479 C9orf142 DPP7 PTGDS NOXA1 PHPT1 SLC34A3 LCNL1 ABCA2 PRR31 ENTPD8 MAMDC4 SAPCD2 NDOR1 TUBB4B EDF1 LOC101930307 NELFB TPRN C9orf172 CYSRT1 FUT7 FAM166A C8G MIR3621 ENTPD2 RNF224 MAN1B1 LCN12 RNF208 RABL6 SSNA1 UAP1L1 NPDC1 LRRC26 C9orf173-AS1 GRIN1 |
More Information
Additional Information:
For this assay, SNP(s) [rs114198953] 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: |
Intragenic Intronic Non-exonic DGV Variation |