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 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBS2 | NM_031885.3 | 11 | 1537 | NP_114091.3 |
XM_005256080.2 | 11 | 1536 | XP_005256137.1 | |
AB208905.1 | 8 | 2679 | BAD92142.1 | |
AF342736.1 | 11 | 1724 | AAK28552.1 | |
AK027635.1 | 11 | 1465 | BAB55252.1 | |
AK127290.1 | ||||
AK289604.1 | 11 | 1427 | ||
BC014140.2 | 11 | 1427 | 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 |
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More Information
Set Membership: |
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Gene Ontology Categories:
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