Genomic Map
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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 Intron 15 |
| 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 | BAD92142.1 | |||
| AF342736.1 | AAK28552.1 | |||
| AK027635.1 | BAB55252.1 | |||
| AK127290.1 | ||||
| AK289604.1 | ||||
| AL834176.1 | CAD38873.2 | |||
| BC014140.2 | AAH14140.1 | |||
| BM982214.1 |
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 |
 NUDT21
BBS2
OGFOD1
AMFR
|
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Additional Information:
For this assay, SNP(s) [rs79356398] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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