Assay Details
Target Gene Details
Entrez Gene ID: | 582 |
Gene Name: | Bardet-Biedl syndrome 1 |
Gene Aliases: |
BBS2L2 |
Location: |
Chr.11:66510648-66533613 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS1 | NM_024649.4 | 15 | 1541 | NP_078925.3 |
AF503941.1 | 15 | 1541 | AAM92770.1 | |
AK027243.1 | 3 | 238 | BAB15704.1 | |
AK095638.1 | 14 | 1548 | ||
AK294962.1 | 7 | 775 | ||
AK296311.1 | 11 | 1256 | ||
BC047642.1 | 14 | 1500 | AAH47642.1 | |
BC109064.2 | 15 | 1534 | AAI09065.1 | |
BC109065.1 | 12 | 1147 | AAI09066.1 | |
BX647612.1 | 15 | 1570 | CAI46060.1 |
Target Gene Details
Entrez Gene ID: | 254359 |
Gene Name: | zinc finger DHHC-type containing 24 |
Gene Aliases: |
- |
Location: |
Chr.11:66520625-66546200 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ZDHHC24 | XM_005273874.3 | XP_005273931.1 | ||
XM_011544894.1 | XP_011543196.1 | |||
AK310561.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522277 | Chr.11:66466552 - 66726354 on Build GRCh38 | Loss | RBM4 PELI3 RBM14 CTSF RBM4B ACTN3 CCS RBM14-RBM4 DPP3 BBS1 LOC101928069 ZDHHC24 CCDC87 SPTBN2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |