Busch Lab

ZMP

bbs12

Ensembl ID:
ENSDARG00000016112
ZFIN ID:
ZDB-GENE-070626-3
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.
Availability:
Order Allele From ZIRC
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