Genomic Map
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Target Gene Details
Entrez Gene ID: | 582 |
Gene Name: | Bardet-Biedl syndrome 1 |
Gene Aliases: |
BBS2L2 |
Location: |
Chr.11:66510648-66533613 on Build GRCh38 |
Assay Gene Location: | Within Intron 13 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| BBS1 | NM_024649.4 | NP_078925.3 | ||
| AF503941.1 | AAM92770.1 | |||
| AK027243.1 | BAB15704.1 | |||
| AK095638.1 | ||||
| AK294962.1 | ||||
| AK296311.1 | ||||
| BC047642.1 | AAH47642.1 | |||
| BC109064.2 | AAI09065.1 | |||
| BC109065.1 | AAI09066.1 | |||
| BX647612.1 | CAI46060.1 |
Target Gene Details
Entrez Gene ID: | 254359 |
Gene Name: | zinc finger DHHC-type containing 24 |
Gene Aliases: |
- |
Location: |
Chr.11:66520625-66546200 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| ZDHHC24 | XM_005273874.3 | XP_005273931.1 | ||
| XM_011544894.1 | XP_011543196.1 | |||
| AK310561.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv522277 | Chr.11:66466552 - 66726354 on Build GRCh38 | Loss |
 CTSF
RBM4B
PELI3
SPTBN2
LOC101928069
ACTN3
DPP3
RBM14-RBM4
ZDHHC24
RBM4
CCS
BBS1
RBM14
CCDC87
|
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Additional Information:
For this assay, SNP(s) [rs75606745] 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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