ZMP
bbs7
Ensembl ID:
ZFIN ID:
Description:
Bardet-Biedl syndrome 7 [Source:RefSeq peptide;Acc:NP_001070613]
Human Orthologue:
BBS7
Human Description:
Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:18758]
Mouse Orthologue:
Bbs7
Mouse Description:
Bardet-Biedl syndrome 7 (human) Gene [Source:MGI Symbol;Acc:MGI:1918742]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa908 | Essential Splice Site | Available for shipment | Available now |
| sa14873 | Nonsense | Available for shipment | Available now |
| sa32004 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa908
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083833 | Essential Splice Site | 176 | 715 | 5 | 19 |
| ENSDART00000147537 | Essential Splice Site | 176 | 410 | 5 | 11 |
Genomic Location (Zv9):
Chromosome 14 (position 49325398)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 47402636 |
| GRCz11 | 14 | 46389717 |
KASP Assay ID:
554-0815.1 (used for ordering genotyping assays)
KASP Sequence:
GCATTGTGCCCATTTTGGCCTGCCAGGACAGAGTGCTTAGGGTATTGCAG[G/A]TCAGCAAACACAACATTCAGTCCTGTCCATATTTKTTGCATTTTTTTTCT
Long Flanking Sequence:
TTTTTGTAAAGCATCCTATTGAAAATATTACTTTTTATTTTGTCAGCCCGTGTTCAAATCGCTCCCAGGACAAAAGATCTCCAGACTTGAGCTTGGAGGAGCTTTGGGAACCCCGCAGGAGAAGATCTTCGTAAGCTCTGGATCTGAAGTGAGGGGATACACTAAAAAGGGCAAACAGTTCCTTACATTTGAGGCTAACCTAACAGAGAGCATTAATGCCATGTGAGATCCTGCTTCATTTAGTCTCAATTTGTCTATTTTTATTTTAACGATTAGGATTATTAAATGCTTGTTTTGTCTTATTTTCTAACAGGCATGTTTCAGGGGCAGATCTGTTTGTGTGTGCCAGTTACATTTATAACCATTACTGTGACTGCAAGGACCAGGACTACTACCTGTCCGGAGACAAGATCAATGATGTTCTGTGTTTACCCGTGGAGACAGTGGGCCGCATTGTGCCCATTTTGGCCTGCCAGGACAGAGTGCTTAGGGTATTGCAG[G/A]TCAGCAAACACAACATTCAGTCCTGTCCATATTTTTTGCATTTTTTTTCTCTGAGCTTTTTAAAATTACCTTTTCATCATATTACTGATGTCAATGAAATTCATAACAGAATATGTAAAGCACAGCATCACAGTCATTTAACTAATTAGAGCTTTTTTACATTGCACTTAATGGGTTAGTTCACTTCCAAAATGAAAATTTCCTGATAATTTACTCACCCCTTTGTCATCAAGGTTATTATAGTTTAGCATTATTCTTGTTTATTTTTTAATCTACTGTAAATTTCAGTTTAGTTTTGGGTCGTTTCATTAATGGTCTTGTTTAGTTTAGTAATTTTGCTTTAGCAGAATTCACAGAACACATCCAGTGATGACCAGAGCAAAGTGTACAGCTTACATTAACTCCTTTGCAAACCTTATAATAATAGAAATAAAATAAGTGTTTGAACAAACATTGAACTTAAATTATACAAATGCAATAATTGAAAGTAAAATTAAGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14873
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083833 | Nonsense | 225 | 715 | 7 | 19 |
| ENSDART00000147537 | Nonsense | 225 | 410 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 14 (position 49323671)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 47400909 |
| GRCz11 | 14 | 46387990 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTATGGGACAGCGGATGGGAAACYGGGTCTTGTGCGAATTGCCAAATCT[G/T]GWCCCGTTACTAGCTGGGAACTGGATAATGAAAAGAAAAAAGGAGGTAGG
Long Flanking Sequence:
AATGTAATTTATTTTTGCAGACATTTCAAAAGGTATCTGAAGTTGCAACATTATATGTGAATGTCTGGTAAGGGGGAAAATATTACAAATAATTAACAACAGAGTCCAGCAAAATCAAAACATGGAAGAAAAAAACTTTAAATGTTAATTTTGAGCTGCGGGAAACGTGATGACAGAGAACCCGGGATTTCATTTACACAGCTTTAGGAAAAAAACAGATTTTACCATTTCAAGTGTAAAAAATGTTCTACTCTAATTCTTCAGGGTTCTGAGCTTCAGTACGACGTAGAGGTTCCTGGTCCTCCAACTGTTCTGGAACGTCACGACAGAGATGGAGGTATGTGCTAAAAATCTGATCAAACAGTTCAATATGAAAGCGTGTTTTGGTTGAGTTTCAGGATTTGATGCAGTTCATTTCTTGGTCCTCAGGAAAGGGTGGTGAAGAGGTTCTTTATGGGACAGCGGATGGGAAACTGGGTCTTGTGCGAATTGCCAAATCT[G/T]GACCCGTTACTAGCTGGGAACTGGATAATGAAAAGAAAAAAGGAGGTAGGAATGACAAAACTAGCTATTTGCAGCACACTATTATTGGCAATCTTGATTGAAAAACTAAACATAACAGAAATGAAATGGCCCGTTTCCACTGAGTGGTACAGTACGGGTCGGTACGGGTCACCTTTATCAGGCTTGTGTTTCCACTGCCAAAAGGGTACAAATAGTGGGCATGGTGTACGCCAGAAAGTTTCAGTCGACGTCATTCTCGCTCGAGGAAATGTCAAAGTAAACTGTGTGGGTCGTTCACATATTATATGAGAAGCACTTCTCACAACACAGATGCTTTATACACATAAATACTTGTGTATAAATGTTCATTTCTAACCTTTCTATGAACAGGATTTGATTATACCTGCAGATCAATAACAGTGCGAAATAGCCTACTGTAGCGTCTGCAATTATATAAAATAAATAAATAAATAAATGCAGCATATATGAACACAAATAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32004
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083833 | Essential Splice Site | 504 | 715 | 14 | 19 |
| ENSDART00000147537 | None | None | 410 | None | 11 |
Genomic Location (Zv9):
Chromosome 14 (position 49317553)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 47395112 |
| GRCz11 | 14 | 46382193 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAAACCACTTTCCCTCCATCAAAGGACACACACAATCGAGCAGGAGCGG[T/C]GAGCTTACACACACACTCCTGTTACCTTTCAATAGTCCTGCAAAATGAAC
Long Flanking Sequence:
TTACATGTGTTGTTGTTCTCTCCAGAGTGACGTTCCTATTGACCTGCTGGATGTTGATAAGAACTCAGCAGTGGTCAGTTTCAGTGAATGCGATTCAGAGGTAATGTTTTCAGTCCTGTTCACCACTTGTTGATCACTTAATAATCACTTCGCGTGCATTTGCAAAACAGGCTATGTTTGTTCTTCTAAACTTACAGTCAAACGGGAACTTCCTCCTGGCCACTTACAGGTGCCAAGCAAACACCACAAGGCTGGAGCTGAAGGTGTCTGTTGTTTAATGTCTAGATACATACAGTAATATTTGTTTAAAACTACAATAATAAGCATCTGCCCTTATTTTATTTTATTTTATTTCATAGGTGAGGTCTATAGAGGGTCAGTATGGCACTCTTCAGGCCTATGTGACACCAAGGCTTCAGCCCAAAACCTGCCAGGTTCGACAGTACCAGATTAAACCACTTTCCCTCCATCAAAGGACACACACAATCGAGCAGGAGCGG[T/C]GAGCTTACACACACACTCCTGTTACCTTTCAATAGTCCTGCAAAATGAACATAAACATGATTCTCTCATCATCACTAGGCCCATGAACACCTTGAGACTGACAGGACAGTTCAGTTTTGCAGAGATTCATTCCTGGGTTGTGTTCTGCCTACCGGAGGTCCCAGAGAAAACACCAGCCGGAGAAAACATCACCTTCTGCTTTCAGAACACTTTCCTGGGCACACAGCTTGAAGCCACTTATTGGTGAGGATTGCTAGTTTATTATCCAAATATGTGACCCTGGATCAGATGATTTGATTTTTAGGGATGTCCAGATGCGATTACTTTATCGGAAATCAGGCCCAATCACACGATTTCAAACTTGATTAGAATCGGACGTTACCTCCCAAACAGGACTTGAATATATATGTATATATGATTTATTTTTTAACATCTATAGTTATGCGGTGGCACACAGAGTTAAACCTCTTTCTTGACTTCACACAGAAACAGCAACACAT
Associated Phenotype:
Not determined