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 Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CLN3 | NM_001042432.1 | 1 | 149 | NP_001035897.1 |
NM_001286104.1 | 1 | 149 | NP_001273033.1 | |
AK090709.1 | 2 | 1144 | ||
DA552461.1 | 1 | 149 | ||
DA703317.1 | 1 | 149 | ||
DB101039.1 | 1 | 149 |
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 SULT1A2 APOBR SGF29 NUPR1 IL27 |
esv2758640 | Chr.16:28163817 - 29139232 on Build GRCh38 | Gain+Loss | CLN3 SULT1A1 SULT1A2 CD19 ATP2A1 NPIPB8 NUPR1 EIF3CL SH2B1 IL27 XPO6 LOC101928215 ATP2A1-AS1 MIR4517 NPIP NPIPB9 SBK1 MIR6862-1 RABEP2 MIR6862-2 EIF3C SPNS1 NPIPB6 TUFM LAT APOBR RRN3P2 SGF29 MIR4721 ATXN2L NFATC2IP |
nsv1059555 | Chr.16:28373144 - 29195838 on Build GRCh38 | Gain | CLN3 SULT1A1 SULT1A2 CD19 ATP2A1 LOC107984832 NPIPB8 NUPR1 EIF3CL SH2B1 IL27 LOC101928215 ATP2A1-AS1 MIR4517 NPIP NPIPB9 MIR6862-1 RABEP2 MIR6862-2 EIF3C SPNS1 TUFM LAT APOBR RRN3P2 SGF29 MIR4721 ATXN2L NFATC2IP |
nsv833180 | Chr.16:28346157 - 28574165 on Build GRCh38 | Loss | CLN3 NPIPB6 MIR6862-1 APOBR SGF29 NUPR1 EIF3CL IL27 |
nsv9415 | Chr.16:28468881 - 28498959 on Build GRCh38 | Gain | CLN3 APOBR |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |