Assay Details
Target Gene Details
Entrez Gene ID: | 1201 |
Gene Name: | CLN3, battenin |
Gene Aliases: |
BTS, JNCL |
Location: |
Chr.16:28466653-28492302 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509608 | Chr.16:28449797 - 28632895 on Build GRCh38 | Insertion | CLN3 SULT1A1 IL27 SGF29 APOBR SULT1A2 NUPR1 |
esv2758640 | Chr.16:28163817 - 29139232 on Build GRCh38 | Gain+Loss | CLN3 LAT MIR4721 NPIPB8 LOC101928215 RRN3P2 SULT1A1 SPNS1 RABEP2 IL27 EIF3C TUFM NPIPB6 SGF29 NFATC2IP ATXN2L SBK1 ATP2A1-AS1 NPIPB9 XPO6 MIR4517 NPIP SULT1A2 NUPR1 CD19 MIR6862-2 MIR6862-1 ATP2A1 SH2B1 APOBR EIF3CL |
nsv1059555 | Chr.16:28373144 - 29195838 on Build GRCh38 | Gain | CLN3 LAT MIR4721 NPIPB8 LOC107984832 LOC101928215 RRN3P2 SULT1A1 SPNS1 RABEP2 IL27 EIF3C TUFM SGF29 NFATC2IP ATXN2L ATP2A1-AS1 NPIPB9 MIR4517 NPIP SULT1A2 NUPR1 CD19 MIR6862-2 MIR6862-1 ATP2A1 SH2B1 APOBR EIF3CL |
nsv833180 | Chr.16:28346157 - 28574165 on Build GRCh38 | Loss | MIR6862-1 CLN3 IL27 NPIPB6 SGF29 APOBR EIF3CL NUPR1 |
nsv9415 | Chr.16:28468881 - 28498959 on Build GRCh38 | Gain | CLN3 APOBR |
More Information
Additional Information:
For this assay, SNP(s) [rs76662516] 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 |