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: | Overlaps Intron 5 - Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS1 | NM_024649.4 | NP_078925.3 | ||
AF503941.1 | AAM92770.1 | |||
AK095638.1 | ||||
AK294962.1 | ||||
AK296311.1 | ||||
AK302657.1 | ||||
BC047642.1 | AAH47642.1 | |||
BC109064.2 | AAI09065.1 | |||
BC109065.1 | AAI09066.1 | |||
BX647612.1 | CAI46060.1 |
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 | BBS1 ACTN3 ZDHHC24 RBM14-RBM4 CTSF PELI3 RBM4 CCS CCDC87 RBM14 RBM4B SPTBN2 LOC101928069 DPP3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |