ZMP
bbs9
Ensembl ID:
Human Orthologue:
BBS9
Human Description:
Bardet-Biedl syndrome 9 [Source:HGNC Symbol;Acc:30000]
Mouse Orthologue:
Bbs9
Mouse Description:
Bardet-Biedl syndrome 9 (human) Gene [Source:MGI Symbol;Acc:MGI:2442833]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14425 | Nonsense | Available for shipment | Available now |
sa18653 | Nonsense | Available for shipment | Available now |
sa22748 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14425
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 |
---|---|---|---|---|---|
ENSDART00000111308 | Nonsense | 121 | 877 | 4 | 20 |
Genomic Location (Zv9):
Chromosome 16 (position 8181604)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 7027336 |
GRCz11 | 16 | 6968014 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTATGGTTTTCTCAGGYACYGCCGGTAATGTTGAAYATGGKGACCAGTA[T/A]CAGCTGCGACTGGTKTATGAACACAACCTGCAGAGAACAGCTTGCAACAT
Long Flanking Sequence:
TAAGTTAATATTTTCAAGGGGAAATATCCCTATACACCTCAAAAATGCTTTTCTTACTTTTTACTTTTTTATCCCCTTTCTAGTCCAAATGTCTAAACATTCTTAATCAAGAAGCATTTTCTAGACAAGCAAAAAAAAAAATCTTTTTTAATAAATAATATGCTAAAATTAAATGAGTTTTTCATTAAAACAATATAATCTTGTTTTTCTTTTTGACATGACATTATTTTGCTTACTCCACAAAATGCAAGTAAGAAAAGCCTTTTTTCGTAGTGTAAATACACACACAAGGACTATTTTTAGATATAATTTGTGTTACTAATTAAAACGTCTCAGTAAAGTTTGTTTTTGAAAAACAAAAAACAAAATCACCTATATGCATTGGCTACTTCGAACTTTTTATGAAATAGTTTAATCATAGACCTCTTTAATTACAGTATGTTTTCCATATGTATGGTTTTCTCAGGCACCGCCGGTAATGTTGAACATGGTGACCAGTA[T/A]CAGCTGCGACTGGTTTATGAACACAACCTGCAGAGAACAGCTTGCAACATGACGTATGGCCCATTCGGTGGTGTTACAGGTAATCGATCATATCAGTATTCCATACATAATATTATTATAGCATTCTAAAATACTCAGTGGGCTACAGTTTTAAAGGCATATACTGTTCTTCTCCTCAGTATTTAAGTTCAATAATAACCGAAAGGTATCTTTATTGGTAACATTTATTAAGTTTGGTAAGGTTAACATAATAACTAACATTGTCAAACAAGGAGAGGTACATTACAATATGTATTTATCTTTTTTAATATTAGTTAATAAAAACGCAACTGTTCATTGTAAATTCATATCACCATTGGATTTTTTGTGAATTTTGGAAGTCTTTGCTTAAGATTAATTAACAACTTGGAAGTATTGTGTTTTTTATTAGAAGTTCATGTTAACTAATATAATTAACACATTTTTTTCGCACACTTTCATAGACACTTTAAAGATATAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18653
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 |
---|---|---|---|---|---|
ENSDART00000111308 | Nonsense | 220 | 877 | 6 | 20 |
Genomic Location (Zv9):
Chromosome 16 (position 8186074)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 7031806 |
GRCz11 | 16 | 6972484 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTAAATTCAGATACGAGACGCTGGCTGTGGCCACAGATGCAGACACCAAA[C/T]AAGACTCGAATCAGCAAAGCAAGAGCTCAGGAAAAAGACTGACTGTGYGT
Long Flanking Sequence:
GTAGACAGTGCTAAAGTCCCGCATCTTCACGTAATAACACTGTCTTGACTAGTGCGGTTGAATGACATTTGTCCTGGGAACACTGTACCAATGTGGCGGCGCTATAGACGCATGCTCAGGGTACCTATGCAATATCTAGTGTATATATCTATGGTTTTTATTGCGTCATTTGGGACACAACCACCGTACAGTATCCACTGGATGCACACTTCAAAATCTCACCCTAATTAGTTAGTTGGTCATTCAAATGCTTTGCTATTGTATAATGAATACTATTCATATGTATTACTTACCTCCTATACAGTTTTTCCACGCAATTTGCAAGTAAACGTATTTCTATGGAGGTTGTTGTTTTGGATCAACCCTTTTAGCACATCAGTGTTGTGGTTTAGTGAATTTTGTAATGCTTTATATTGTGTTCGATTGGTAAAACTGACATTCTCTGCTCTTTTAAATTCAGATACGAGACGCTGGCTGTGGCCACAGATGCAGACACCAAA[C/T]AAGACTCGAATCAGCAAAGCAAGAGCTCAGGAAAAAGACTGACTGTGCGTTATTTGCCAGTATAATGTGCATTTACATTATGAAGATTTGGCTTGAGGTTTGACATGACCGAGTGTGTGTTTGTCCCCAGGCTGACTGGACTCTTGTGTTAGGAGAAGAGGCTCTAGATATCTGTGTTCCCAACACGTCTCCGGCGATGTCCTCCATCTTTGTGCTGGGGGAGAGAAATCTGTTCTGTCTCAAGGACAACGGCCAGATCCGCTTCATGAAGAAACTGGAGTTCAACCCCAGCTGTTTTCTTCCTTATGCATCAGGTGACTGATCACAGCAGTCAATCATATTTCAATTTCTACTGTGCATACTAACATTATGTTTGCAGTAGAGGTGTGAACCTATACTGGTCTCACGGTTCGGTTCGGTTACGATTATCATGCCTTCGATTCGGTTCAATTCGATATTTCGGTGCATCACGGTGCATTGACGATGCTTTCCATATACAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22748
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111308 | Nonsense | 722 | 877 | 18 | 20 |
Genomic Location (Zv9):
Chromosome 16 (position 8267755)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 7113487 |
GRCz11 | 16 | 7054165 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACGCAGCAGAGGACAACCGTGAGCGTTTGATCCAGGCGTTTGCACGTT[T/G]ACGGAGCGCGACTCACCTCCTCATCCTGCTGCTGTCTCTGTGGCAGGGGC
Long Flanking Sequence:
ACTCACCGGCCACTTTATTAGGTACACCTATCCGACTGCTCGTAATGCAATTTTCTAATCAGCCAATCACATGGCAGCAACTCAGTGCATTTAGGCATGTTGACATGATCAAGACGATCTGCTGCAGTTCAAACCGAGCATCAGAATGGGGAAGAAAGATGATTTAAGAGACTTTGAATATGGGATATACATAATAAAGTGGCCTGTGAGTGTATATCAATGTGTATTAATTGGACGATGCAAACAGGTGTAAATGGGGACTGAAACTTTTTGAGCTTGTCCTCTTTTGACAAATATAGAAATTAATAACTTTGCTACCAGGATAATTAGTCAATTTTAATACTTGTAAGAATATAGTCATGTTGCTATAATATATAATATATGTCATCTGGTTGTTCACTTCACTCTTGGACATCCCTGTATTTGTCTCTTTCAGGTTCTAGCATTAGCAGACGCAGCAGAGGACAACCGTGAGCGTTTGATCCAGGCGTTTGCACGTT[T/G]ACGGAGCGCGACTCACCTCCTCATCCTGCTGCTGTCTCTGTGGCAGGGGCTGAACTCCGAGCAGACCACCATCCTGGAGGCCACTCTCCTGCCACTGCTGCAGGACACACCGCAGCTTGTGAGAGAACACACACATATGTACACAAACCTGACATTAGACACTAGTGTCTGGATGTCGTGGAGAATCTGTTTTAAGAGTGTACAGTGCATGTGGAAAGTATTCATAGCACTTCCCTTTTTCCACATTTTTTTATGTTACAGCTTTATTCCAAAATGGATTAAATGAATTTATTTCCTCAAAATTCTACACACAACACCCCATAATGACGTTTTTTTTTTTTTTTTCAAATTTATTAAAAATAAAAAACCTGTTAAATCACATGTACATAAATTTTCACAGCCTTTGCCGTGAAGCTCTAAATTGAGGTCAGGTACATTCTGTTGAGTCAGAGAGGTGATCAATAACCCGATGGTCACTCTGTCTGAACTCCAGCGTTCTT
Associated Phenotype:
Not determined