ZMP
FBN1 (1 of 2)
Ensembl ID:
Description:
fibrillin 1 [Source:HGNC Symbol;Acc:3603]
Human Orthologue:
FBN1
Human Description:
fibrillin 1 [Source:HGNC Symbol;Acc:3603]
Mouse Orthologue:
Fbn1
Mouse Description:
fibrillin 1 Gene [Source:MGI Symbol;Acc:MGI:95489]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9112 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa9112
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058537 | Nonsense | 547 | 940 | 15 | 26 |
Genomic Location (Zv9):
Chromosome 18 (position 4755724)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 5514422 |
| GRCz11 | 18 | 5331651 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACCGTAAYGAGTGTGCTGARAATCCTAACATCTGCAGTCCTGGTCAGTG[T/A]ATTGATATGGTGGGCAGTTACCGCTGCATCTGCCCCAACGGCTTCAAGTC
Long Flanking Sequence:
GATCTGTGAGGGTAAGAGCGAGAGAGTGTGTGTGTTTGTGTGTATATGTGCTTGTGATGTGACTTACATCTGTGTGTGTGGGTGTGTGTAATGTGATGTATGTGTGCATGGTGTGTATATGTGTGTGTTTCTGTGTTGTGTGGATTACATTATTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGCGCAGATATTGATGAGTGTCAGAACGGGCCGGTGTGTCAGCAGAACGCCGTCTGTCTGAATGTTCCTGGAAGTTTCCGCTGCGAGTGTAAATCTGGATACCGGCAGACTCCGACGCAGCAGTGTGTCGGTAAGTGTGTGTGTGTGTGTGTGTTAGAATATAGATAAAACTTTTGTGATACAGCAATTGTCATATTCATATGGTGATGGTGTGTGTGTGTGTGTGTGTCTCAGACCGTAATGAGTGTGCTGAGAATCCTAACATCTGCAGTCCTGGTCAGTG[T/A]ATTGATATGGTGGGCAGTTACCGCTGCATCTGCCCCAACGGCTTCAAGTCCACCCCTGACCTGTGCATAGGTAAGCGATTAAACGTGTGTGTATGTGTGTGTGTTCTGCTGTCCATAACTGATCAACAATCTAATCAGCTGAGCGATGTGTGCAAAACTAACCATCAATCCTGCGCTGTGTATTCTCTTCTCCACTAAAGCTGCTGTGGTCTGTGTGTATGACTAACTGACCGTCTGTGCTCTCTGTGGTAAGAACTAACCACCGTCTGTTGTGTTCATAACACACTGACCGTCTGTGCCTTTTTGTGTGTGTGTTTGTGTTGACCATTTTGACCGTCTGTAGTTTTATTTATAAATAACTGACCGTCTGTAGTTTTATTTATAAATAATTGACCGTCTGTAGTTTTATTTTTAAATAACTGACCGTCTGTAGTTTTATTTATAAATAATTGAACATTTGTAGTTTTATTTATAAATAATTGACCGTCTGTAGTTTTATT
Associated Phenotype:
Not determined