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: | Overlaps Intron 11 - Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS2 | NM_031885.3 | NP_114091.3 | ||
XM_005256080.2 | XP_005256137.1 | |||
AB208905.1 | 8 | 3757 | BAD92142.1 | |
AF342736.1 | AAK28552.1 | |||
AK027635.1 | BAB55252.1 | |||
AK127290.1 | 1 | 1050 | ||
AK289604.1 | ||||
BC014140.2 | AAH14140.1 |
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 NUDT21 OGFOD1 AMFR |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |