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 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CLN3 | NM_000086.2 | 15 | 1759 | NP_000077.1 |
NM_001042432.1 | 16 | 1795 | NP_001035897.1 | |
NM_001286104.1 | 15 | 1723 | NP_001273033.1 | |
NM_001286105.1 | 13 | 1600 | NP_001273034.1 | |
NM_001286109.1 | NP_001273038.1 | |||
NM_001286110.1 | 14 | 1680 | NP_001273039.1 | |
AI138575.1 | 1 | 121 | ||
AK090709.1 | 15 | 2964 | ||
AK294070.1 | 14 | 1604 | ||
AK297690.1 | 13 | 1542 | ||
AK302027.1 | 15 | 1463 | ||
BC002394.2 | 16 | 1553 | AAH02394.1 | |
BC004433.1 | 16 | 1553 | AAH04433.1 | |
BC111068.1 | AAI11069.1 | |||
U32680.1 | 15 | 1573 | AAB51075.1 |
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 | SGF29 IL27 APOBR NUPR1 SULT1A1 CLN3 SULT1A2 |
esv2758640 | Chr.16:28163817 - 29139232 on Build GRCh38 | Gain+Loss | NPIPB8 IL27 SH2B1 XPO6 LOC101928215 NUPR1 MIR6862-2 SULT1A1 MIR4517 EIF3CL SPNS1 NPIPB9 MIR4721 TUFM SBK1 EIF3C SULT1A2 NPIPB6 CD19 APOBR CLN3 RABEP2 ATP2A1 SGF29 ATP2A1-AS1 NPIP NFATC2IP MIR6862-1 LAT ATXN2L RRN3P2 |
nsv1059555 | Chr.16:28373144 - 29195838 on Build GRCh38 | Gain | NPIPB8 IL27 SH2B1 LOC101928215 NUPR1 MIR6862-2 SULT1A1 MIR4517 EIF3CL SPNS1 NPIPB9 MIR4721 TUFM LOC107984832 EIF3C SULT1A2 CD19 APOBR CLN3 RABEP2 ATP2A1 SGF29 ATP2A1-AS1 NPIP NFATC2IP MIR6862-1 LAT ATXN2L RRN3P2 |
nsv833180 | Chr.16:28346157 - 28574165 on Build GRCh38 | Loss | NPIPB6 SGF29 IL27 MIR6862-1 APOBR NUPR1 CLN3 EIF3CL |
nsv9415 | Chr.16:28468881 - 28498959 on Build GRCh38 | Gain | APOBR CLN3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |