ZMP
bbs1
Ensembl ID:
ZFIN ID:
Description:
Bardet-Biedl syndrome 1 protein [Source:RefSeq peptide;Acc:NP_001091721]
Human Orthologue:
BBS1
Human Description:
Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:966]
Mouse Orthologue:
Bbs1
Mouse Description:
Bardet-Biedl syndrome 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1277215]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa43663 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa29611 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa37331 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa16994 | Essential Splice Site | Available for shipment | Available now |
sa13530 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43663
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113061 | Essential Splice Site | 37 | 588 | 2 | 17 |
Genomic Location (Zv9):
Chromosome 21 (position 26859683)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27428594 |
GRCz11 | 21 | 27465289 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCCACTATGACCCAGTTGCCAACCTGTACACCTTCTCCTCATGCATTGG[T/A]GAGTTTCATGAACTTAATAGTTGCACAATAACTCCCATAACAACTGTTTA
Long Flanking Sequence:
ACGCCATTTAATAACTATTTTCACAAATATGGCGGCTTAGTGAGTGTTTTAAATCTAGCGTTTAGAAATGAATTGATTTGTTGTCTGATGATCTGTTTGAGTCACTTTACAATGAGGTTTCATTACTTCATGTATTTACTAACATTAACTAACAATGAACAATACTATTATTCCTGGTTCTACGTTTTCTACTGCACCATTCAAATCTAAATCCATGCCTGTCAACATTAACCTTAGTTAATGCAGTTAAAATGAACATATTTATTTTCAGTAAGTAGTGTTAGCAAATATGAGTAAATACTGTTATAAATGTGCTCTTCATTGTTTTTTCATGTTAGGTTAGTAAATGCATTATTTAACATTAATGCAACTGTAAAGCATTACATCTGTTTGAAACAATAAGTTTCCCTCTTCTCTTGTAGTTCGGTGGCAAGCTCCAAATGGCTCGATGCCCACTATGACCCAGTTGCCAACCTGTACACCTTCTCCTCATGCATTGG[T/A]GAGTTTCATGAACTTAATAGTTGCACAATAACTCCCATAACAACTGTTTATCCTGCAGCTACCAATCTCAAAACTCATCCTTCTTATCTTTCTTCACAGCTCTTTCAGATTTGCATGGCGATGGTGAAAATAAGGTGAGTTGGTGTGAATGTGTACTTGCACATCGATTGCACATTTTGTTTTTACATTACATTATCTGAATGTAAAATAACTTTACATTCAGTAATGTAATGCTAAAAAATATTAATAATAAGTCACTTGCGTGTGTTTCCAGACGTACAGTGCTCAGCATATTTGAGTACACCCCTCTTAAATCTATCTTTAAATTCATATTTTTCATAGGAAGCTATACAATATTATATCTGTGCATATATATTGGATTAGTCAGTATTGAAGCCAAATCTGGAGCTTATTTAACAAAATAACTTACGATAACAGTCCAAAAACTAGCACAGCCAAATGTATATGTTATAGAAAAATATTAAATACAAATAAAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29611
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113061 | Essential Splice Site | 236 | 588 | 8 | 17 |
Genomic Location (Zv9):
Chromosome 21 (position 26864019)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27432930 |
GRCz11 | 21 | 27469625 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGGATGTTTACATATTGGATCCAGAAGCCTTTACCATTCTCTACAAGG[T/G]CAGCTTTAAGGGAGAACATTGCATCACATTGCAATGTGAACCTAAAATGA
Long Flanking Sequence:
TTAACAATAAAACAAACAAACAAAAAGGGTTACATTAAACTTGAATTGACAATCTCAACCATTTCCATTGCTGTCCTTTTTTTCTCAGATGTGATGGTGGGCCAAATCATAGGTTACCATGGGCCAACCGGACGCTAGTTTGGGCATCTCTGAACAGCTAGTATATTATTGATTTATTTATCTATCCCTTTTATCGTATGATCTTTTCAGGTTTCTGATGCTCGAGCCACATGAAATGGAGAATTTTGTTCATCTTCACAAAGAACAGCCTATACGTAGACAGGTACCAGTTACTGAATACATGTATACAGTCAGTCATTCACACACGGACAGGCTAACTAACACAACTTTTGTCTTTTTGTCTCAGACGGTCATTACCTGTATTGGAACATTAAAGAAGAACATGGCGGATGAGGATGCAGTCAGTTGCCTAGTGATTGGGACAGAGAATGGGGATGTTTACATATTGGATCCAGAAGCCTTTACCATTCTCTACAAGG[T/G]CAGCTTTAAGGGAGAACATTGCATCACATTGCAATGTGAACCTAAAATGATTTCCCCAAAATATGTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGATGTCACTGCCTAGTACGCCCACTCTAATGGACGTGACAGGTCAGTTTGATGTGGAGTTTCGTATCACTGTGGCCTGTCGGAATGGCAACATATACATACTACGCAGGTAAATAAGTAAACGGCAACTTATTTAAAGGCACAGTTCACCCAAAAAAACAAAAGATGGCTGTTATTTTCTCCTTTAATTTAGCTAATAATTAATTTTACTTCAAGCCATGTAAGAAGTAGGTGACTTCTGATGGAATTTTGAGAATGGCTTTAAATGTTTATTTGGGGCTATTTGTAAGTATTTTTTGTTTAAAGGGGTCAAATGTTTAAAGGGCCAGTTCACCCAAAAATTCTAAATCTGAGATCAATTACTCGTTGTTCACTTGTTTCTAACCTGTTTGAGTTTTCTTTTATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37331
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113061 | Essential Splice Site | 365 | 588 | 11 | 17 |
ENSDART00000113061 | Essential Splice Site | 365 | 588 | 11 | 17 |
Genomic Location (Zv9):
Chromosome 21 (position 26866534)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27435445 |
GRCz11 | 21 | 27472140 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/C]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCT
Long Flanking Sequence:
GCTGAAACGATATATTGTGCAGCCCTACTCCAGTGCCACTAATAAGAAGTGTTTCTGAATTACTGTATGTAAAAAGGCCAAATAAACAGATAAGCAACATGCACATGTATATGCTTTCTTGTCTTTAAGGGATTCCCCAAAGCCCAAGTACTGCATTGAGCTGTCCTCTCACCCAGTGGGACTGGTTAGAATGGGAAAGAATGTGGTTGTAGGATGTACTCATGAGACACTGCATGGTTACACTCAAAAGGTATGATAAACAAATCCATATTTTTCACCCTGGAAGTAATGCCTGTGGGGTTGTCTCTTATATGAATCTCTTATATGAATTGTCGTCCAGGGGAAAAAGCTGTGGACAGCTTATTTGCCAGCCCCTGTTACCACCATGGCACTGATGGATCTCCCCACACGAGGATTCCAGGCTGTGCTGGTCGGTCTGGCCAACTGTGAAGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/C]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCTATTTATGGAGTAGGTGTAGGGATTTTTTGCCAATTCCATGCGTGTTCAATAAAGAGGTCAGGAAAGGGTTTTTTCAATGCCAAAAATATTAGTAATATATTAGATACAAATTAATGATTCGATAAACAGAGCTCTGAGTCACATTACACCAACACAATAAAAGAATTACATTCAGAAGTTTTGCAACAACTCTGCATTTCCCTGACTCCAGTATTTATACACAACTGGTATTAAAAGGCAAAGTTTTGGTGGAATTCATCACTTGTCAATCATCCTGTCAGTTCATCACTTGTCAATCATCCCACACCCAGGCATACTTCCCCTTTATGTCAAGTTTTCTGTGCACATAAGCTGACATTATTATCAGATAAAGTATGCTCTGCAACATTCTGTCTTCACACCTTTTTCATTAAGTTATTTTCATACATCGAGGTCACAGGAAACTTCTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16994
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113061 | Essential Splice Site | 365 | 588 | 11 | 17 |
ENSDART00000113061 | Essential Splice Site | 365 | 588 | 11 | 17 |
Genomic Location (Zv9):
Chromosome 21 (position 26866534)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27435445 |
GRCz11 | 21 | 27472140 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTACACATGTAYAGAGACAAAAACCTTATYGGCACTATYAAGACTCCGG[T/A]AAGAACTGTCYTTGAYACATTTGGGTTTGGGTTGTGATRTGGTRAAAGCT
Long Flanking Sequence:
GCTGAAACGATATATTGTGCAGCCCTACTCCAGTGCCACTAATAAGAAGTGTTTCTGAATTACTGTATGTAAAAAGGCCAAATAAACAGATAAGCAACATGCACATGTATATGCTTTCTTGTCTTTAAGGGATTCCCCAAAGCCCAAGTACTGCATTGAGCTGTCCTCTCACCCAGTGGGACTGGTTAGAATGGGAAAGAATGTGGTTGTAGGATGTACTCATGAGACACTGCATGGTTACACTCAAAAGGTATGATAAACAAATCCATATTTTTCACCCTGGAAGTAATGCCTGTGGGGTTGTCTCTTATATGAATCTCTTATATGAATTGTCGTCCAGGGGAAAAAGCTGTGGACAGCTTATTTGCCAGCCCCTGTTACCACCATGGCACTGATGGATCTCCCCACACGAGGATTCCAGGCTGTGCTGGTCGGTCTGGCCAACTGTGAAGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/A]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCTATTTATGGAGTAGGTGTAGGGATTTTTTGCCAATTCCATGCGTGTTCAATAAAGAGGTCAGGAAAGGGTTTTTTCAATGCCAAAAATATTAGTAATATATTAGATACAAATTAATGATTCGATAAACAGAGCTCTGAGTCACATTACACCAACACAATAAAAGAATTACATTCAGAAGTTTTGCAACAACTCTGCATTTCCCTGACTCCAGTATTTATACACAACTGGTATTAAAAGGCAAAGTTTTGGTGGAATTCATCACTTGTCAATCATCCTGTCAGTTCATCACTTGTCAATCATCCCACACCCAGGCATACTTCCCCTTTATGTCAAGTTTTCTGTGCACATAAGCTGACATTATTATCAGATAAAGTATGCTCTGCAACATTCTGTCTTCACACCTTTTTCATTAAGTTATTTTCATACATCGAGGTCACAGGAAACTTCTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13530
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113061 | Nonsense | 550 | 588 | 16 | 17 |
Genomic Location (Zv9):
Chromosome 21 (position 26871327)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27440238 |
GRCz11 | 21 | 27476933 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTGCTGGTTCCAGGGCTAAATTACCCTATTGACACTTTTGTGGAGTGCT[T/A]RAGCGACAAAGGCGTCTCKGACATTATCAAAGTGAGACNNTTTTTTTNTCT
Long Flanking Sequence:
GCACCGGGCATTTCAGATGGACCTGAGCAGGCTGCGTTTAGCTGCAGCACGGGCCTATGTCAAAGCCCTGGAGTCCAGCCTCACACCAATGTCCGCCAGCCTGACTGAGCCACTCAAGATGAACGCTGTGGTGAGTTGAGCAATTCAGAACAAGATGACACCGGATGAGTGATACTGATCTCCACTTCTGCTTTCCATTTCTGCAAAGGTTCAAGGGCTGGGTCCATCTTTCAAGCTCACTCTGAATATCCAGAACACTGCTGCGTCCCGTCCTGTTATGAACCTAGCCATCAGTTTTCTGTATGATGAAAGTTTGTACAGCATGAGAACGGCTTTCTTTAAGGTGACCTCACCCTAAAACTTTCACAGTGATATGAGCAGATGTTTTTAATGTCTAGTTATTGAAGTGTTTTGCTGGTAATCATGAGCTGTTGTGTGTTTGTAGATCCCCCTGCTGGTTCCAGGGCTAAATTACCCTATTGACACTTTTGTGGAGTGCT[T/A]GAGCGACAAAGGCGTCTCGGACATTATCAAAGTGAGACTTTTTTTTTTCTTTCTTCAGAACATTGATGCTGGGTTTGTATCGTCTGAATGGATCGTAAGAGATTCGCATTATAGAAATTAAAAATATTTTTACTATGAGTGTTTACGTCTTAAACCTTGTCATGTACCTTCTATAAGGCATACATATCAACTACATTAACACTGATCACAATATATCACAAAAAGTAGTGATGTTGAAATGAAGCTTTCTTAACTGACCAACTCATTCATGTAGTAATACAACAGTAGTAATATAAAAAAAAATACTCAATAACTGTAGTTTTTTTACATATAAGGTATGTTACATTACAGCACTGATGATTGTAGTAAAAAGCAAGGTATTTAAAAGTATTAATGTTTATCGTATTCCAACCTGTCCTACCCTCTTGTTCTGAGCGGGGATCAAACTGGTGATTCCTGCATGGGAGGCGAATGCTCCAAGAAGGCTATGGGAGTGAGAC
Associated Phenotype:
Not determined