ZMP
si:dkey-235d18.5
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate fibrillin [Source:UniProtKB/TrEMBL;Acc:Q5SPD2]
Human Orthologues:
FBLN1, FBLN2
Human Descriptions:
fibulin 1 [Source:HGNC Symbol;Acc:3600]
fibulin 2 [Source:HGNC Symbol;Acc:3601]
fibulin 2 [Source:HGNC Symbol;Acc:3601]
Mouse Orthologues:
Fbln1, Fbln2
Mouse Descriptions:
fibulin 1 Gene [Source:MGI Symbol;Acc:MGI:95487]
fibulin 2 Gene [Source:MGI Symbol;Acc:MGI:95488]
fibulin 2 Gene [Source:MGI Symbol;Acc:MGI:95488]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37178 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37178
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 |
---|---|---|---|---|---|
ENSDART00000132512 | Nonsense | 161 | 213 | 4 | 5 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 52938572)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 52791419 |
GRCz11 | 20 | 52597035 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGGTCGAGGAGACTGTGAAAACACACTAGGCAGTTACAGGTGTGTGTGT[C/T]AGCGTGGTTACCGTGGCAATGGCACACACTGCACAGGTGAGTAACACACA
Long Flanking Sequence:
CATCTCTATTTATCTATCTATCTATCCATCCATCCAATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCCGTCTGTCTGTCTGTCTGTCTGTCTGGTGCTTTGTATAGGCTTTCTTACATGTTAAGGTAGCATCTAAACTATGTTCACCCTGCATGATGTGCACGCAGATGTGGATGAGTGTGTGGAGCAGCCACACCTGTGTGACGGTCGAGGAGACTGTGAAAACACACTAGGCAGTTACAGGTGTGTGTGT[C/T]AGCGTGGTTACCGTGGCAATGGCACACACTGCACAGGTGAGTAACACACACGCAGACGTGCATGTAAACATTCGATGAAAATGGTTTGAGAAAAGCTGTTACAGAAATTTGTAAACATTGTTTGATTACGTCAATGTCAAAAGCGTGAACACCCACATGTGCTGAGTCCTGAGGAAAACACTGAATCCGATTTCTGGTTTGCTCACAGACATAAATGAGTGCTTGTCCGGGGATCACGGCTGTGACGTCAACGCTCGCTGTGGGAACATCATGGGCTCATACTTCTGCCAGTGTCATCAGGGATACAGCGGAGACGGACACGCCTGCTACGGTCAGTCTGACATCCAGATTACACATCCATCCTGTCTGAATCATGATGATGATGAAGGTGATGATAGCAATGATGGTGATGATGAGGGCGATGGGGATAATTGTGATGGTAGCTATAATGGTCATGATGATGATGATGATAGTGATGACGGTGATGATGATGATGGTGG
Associated Phenotype:
Not determined