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 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS2 | NM_031885.3 | 17 | 2337 | NP_114091.3 |
XM_005256080.2 | 17 | 2336 | XP_005256137.1 | |
AB208905.1 | 12 | 5634 | BAD92142.1 | |
AF342736.1 | 17 | 2524 | AAK28552.1 | |
AK027635.1 | 17 | 2265 | BAB55252.1 | |
AK127290.1 | 4 | 3591 | ||
AK289604.1 | 17 | 2227 | ||
AL834176.1 | 5 | 1685 | CAD38873.2 | |
BC014140.2 | 17 | 2227 | AAH14140.1 | |
BM982214.1 | 1 | 455 | ||
DB316257.1 | 1 | 478 |
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 | AMFR OGFOD1 NUDT21 BBS2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |