ZMP
bbs10
Ensembl ID:
ZFIN ID:
Description:
Bardet-Biedl syndrome 10 [Source:RefSeq peptide;Acc:NP_001082932]
Human Orthologue:
BBS10
Human Description:
Bardet-Biedl syndrome 10 [Source:HGNC Symbol;Acc:26291]
Mouse Orthologue:
Bbs10
Mouse Description:
Bardet-Biedl syndrome 10 (human) Gene [Source:MGI Symbol;Acc:MGI:1919019]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa28976 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa39189 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa28976
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000101238 | Nonsense | 2 | 565 | 3 | 4 |
ENSDART00000122549 | Nonsense | 4 | 567 | 2 | 3 |
ENSDART00000141069 | None | None | 151 | None | 2 |
Genomic Location (Zv9):
Chromosome 18 (position 6843045)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7420735 |
GRCz11 | 18 | 7379670 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACTATATATATATATTTGTGTGTGTGTGTGTGTTTATGTGTGTAGATG[C/T]AGCAGCAGCTGGAATGTGTGTCTCTGCAGGTGTGTGTGAGTGTTCTCGGG
Long Flanking Sequence:
TCACAGCAAGAAGGTCGCTGGTTCAAGCCTCAGCTCAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCCCTTCGTTCACATGGGTTTCCTCTGGGTACTCCGGTTTCCCCCACAGTCCAAAGACATGCGGTACAGGTGAATTGGGCAGGCTAAATTGTCCGTAGTGTATGAGTGAATGTGTGTGTGGATGTTTCCCAGGGATGGGTTGCAGCTGGAAGGGCATCCGCTTTGTAAAAACGTGCTGGATAAGTTGGCGGTTCATTCCGCTGTGGCGACCCCGGATTAATAAAGGGACTAAGCCGACAAGAAAATGAATGAATGAATATTTTCTAAATTTGCCAGTATGTGTTTTTTGTGAGTTTTGTTTAGGTTTGTGAAAAGGATATAGCAATACAATAAAGTTTAGAAAGAATTAAAATCATTACATCTATGAAGAATACAAGTACATTTACTATATATATATATTTGTGTGTGTGTGTGTGTTTATGTGTGTAGATG[C/T]AGCAGCAGCTGGAATGTGTGTCTCTGCAGGTGTGTGTGAGTGTTCTCGGGCCGCTGGAGTCTGTAGTCCGCCGGTGTCTGGGTCCAGAGGGCGGCAGTGTGCTGTTCACTCGTGACACCGGGGAAACACTCATCAGCAGACATGGACAGAGAGTTCTCAGCACACTACACCTAGAGCACCCTATGGCCAGGTATTCATGCGTTTACATCACATTCGCATTTTACAATATTATAACGAAGCAAGGAATTTTTCACAGTATTTCCTATAATATTTTTGTTCTGGACAAAGTCTTATTTGTTTTATTTTGGCTTTTTATTTTTTTAAAAACTACTTTAAGGTCAATATTATTAGCCCCTTCATGCTATATTTTGTTTGTTGTCTACAGAACAAAGCATAATTATACAATAACTTGCCTAATTACCCTAACTTGCATAATTGAACAATTTAACCCAGTTAAACCTTTAAATGTAACTTTAAGCTGAATACTAGTATTTTTAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39189
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000101238 | Nonsense | 251 | 565 | 4 | 4 |
ENSDART00000122549 | Nonsense | 253 | 567 | 3 | 3 |
ENSDART00000141069 | None | None | 151 | None | 2 |
Genomic Location (Zv9):
Chromosome 18 (position 6840537)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7418227 |
GRCz11 | 18 | 7377162 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACTGAATTGCGAGGTCCAATAAAAGCGCTAGTTTTATATGAGAGTTTT[G/T]GATCATCTCTTGGTGATAATATAACCGTATGCTTTCAGCAAGACTGGTTG
Long Flanking Sequence:
CATTCATTCTCCTTCTGTCTGCACTATTGCGAGCAATTCAAGACTCTGCACACATGCGCCGCAAAGCATCTTGGAGCAACCCTGCTCTTCAAAATCTTGCTAATCGCTTGATGGCGCTCAGTAGGAATGAGCTGGATGATATCATAATACACCAAGTTACCCCATATGCCTCATCATACTGTAGTCACCATAGCGACAAACTGGAGCACAGCATCCTAGATTATTTGATCAGCGGGTACATTTCTGGAAGAACAGGAGCTGGCCAGGCGGAAATCCTTAAACATATCCTGTGTGAGTTTTACTATAAATCTAAACGAGATCAAAACACAACCGAAACAATCTCATTCATTCATTCACACTTTAATGTCTTACATACGCGAGTGGCCGGACTTCCTGTTGGCTGCTCTGAGGTGATTGAAGGCCTGGTTGTGACTCGTGATTGGTCAGTGTGGACTGAATTGCGAGGTCCAATAAAAGCGCTAGTTTTATATGAGAGTTTT[G/T]GATCATCTCTTGGTGATAATATAACCGTATGCTTTCAGCAAGACTGGTTGAGTCGCACAGAGAGCATCACAAAGCAAAAGTTAGCATATTTACTAGAATTACAGGTGAATGTGGTGCTGTCTTCTGTAAAGCAGCCGGAGTGTGTGTTACAATGGGCTCGAATGAACCACGTCGCTCTTCTTGAGTGTGTTGACTCGGACCAATTAGACTTTCTTTGCAACATCAATTTTCCAGAAACTCTTTCTCATCCGCAACACATTGTGATGTTAAAATACTGTAAGCGTTTGCAACTGGGTGGGCTTCGCTGCGCCCAATTGGGAATATATTCAAACGCGCACACGCTTGTTCTTTGCGCACCGGCGCCAGGATTGCTTGATCAGACTGTGTGTGTAAGTCGAGGTGTGTTTTTAATGTTACAACATATCACTCGAACCCTAGAATCCAATCAATTCAAGAGTTCTTCTGTTGACCAATCACAATGCACCGTTTCATCTCAGGAT
Associated Phenotype:
Not determined