Assay Details
Target Gene Details
Entrez Gene ID: | 583 |
Gene Name: | Bardet-Biedl syndrome 2 |
Gene Aliases: |
BBS, RP74 |
Location: |
Chr.16:56470403-56520096 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS2 | NM_031885.3 | 16 | 2233 | NP_114091.3 |
XM_005256080.2 | 16 | 2232 | XP_005256137.1 | |
AB208905.1 | 11 | 5530 | BAD92142.1 | |
AF342736.1 | 16 | 2420 | AAK28552.1 | |
AK027635.1 | 16 | 2161 | BAB55252.1 | |
AK127290.1 | 3 | 3487 | ||
AK289604.1 | 16 | 2123 | ||
AL834176.1 | 4 | 1581 | CAD38873.2 | |
BC014140.2 | 16 | 2123 | AAH14140.1 | |
BM982214.1 | 2 | 559 | ||
DB316257.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833243 | Chr.16:56375371 - 56549461 on Build GRCh38 | Gain | BBS2 OGFOD1 NUDT21 AMFR |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |