ZMP
bbs12
Ensembl ID:
ZFIN ID:
Description:
LOC570583 protein [Source:UniProtKB/TrEMBL;Acc:Q08C17]
Human Orthologue:
BBS12
Human Description:
Bardet-Biedl syndrome 12 [Source:HGNC Symbol;Acc:26648]
Mouse Orthologue:
Bbs12
Mouse Description:
Bardet-Biedl syndrome 12 (human) Gene [Source:MGI Symbol;Acc:MGI:2686651]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22406 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22406
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000007091 | Nonsense | 171 | 764 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 14 (position 1367380)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 1343954 |
| GRCz11 | 14 | 1357073 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATGATGGTCAAACACAGCAGATACATTAATGCACGAACTAAAAACACA[C/T]AATCTGATGACAATGTGCAAGATTTTAGAAAGTTAAGTATTAAATCAGAT
Long Flanking Sequence:
ACAAACTATCTCCTCTTTTTTTTTTCTCTCAGCGGCGTCACATCGGCCTCCAGCAGCTGCAGGCCATCACATCCACCGCTCATGCATTTCTAGGTCCAAACAAACGGCTGAAGTTCATTCAAGATGAAGACGCCGGGGATGCAGTTTTAATCGGATCCTGTCCACGTCTGCTGGAACACCTGGAGCTGGACGGATCTGTCGGACAGCTGCTGCACGAGACAGTTCTGGCCCAGAAGAAGCTCTTCCACTCGGGCACGAACACGCTGATGTTTCTGGCCGGAGCCTGGAGCCGAGTCGCTCTGGAGTGTCTGAACAGAGGAATCAGTGTGTCGGACATTAAATCAGCCATGAGGGGAGGACTGCAGGAGTGTTTGGATGCATGCACACAGTTAGCGGTCAGTGTGGAGGAGTTTAAGAAATCTGATGTTAGATCTAATGATCAGTGCATTGATATGATGGTCAAACACAGCAGATACATTAATGCACGAACTAAAAACACA[C/T]AATCTGATGACAATGTGCAAGATTTTAGAAAGTTAAGTATTAAATCAGATGATCAGTGCATGGATATGACACATAAACATAGCAGATATGCTAATACACAAACTGAACACGCACAATCAGATGACAATGTGCAAGATTTTAAGGGATCAGGTATTAAATCTAATGATCAATGCATGGATATGACACTCAAACACAGCAGATACATTAATACAAAAACGGAACACGCACAATCAAATGTCAATATGCAAGATTTTAGGAAGTTAGATGATAAATCTGATGATCAATGCAAGCATATGACACTCAAACACAGCAGACACTTTAATGCACGAACTAAAAACACACAATCAGATGTCAATGTGCAAGATTTAAAGGGATCAGATATTAAATCTATTGATCAATGCATGGATATGACACTGAAACACAGCACACACTTTAATGCACAAACTGAACACAATATGCAAGATTTTAGGAAGTTAGATGATAAATCTGATGATCAATGC
Associated Phenotype:
Not determined