fbn2b

Ensembl ID:
ENSDARG00000016744
ZFIN ID:
ZDB-GENE-090112-3
Description:
fibrillin-2 [Source:RefSeq peptide;Acc:NP_001129262]
Human Orthologue:
FBN3
Human Description:
fibrillin 3 [Source:HGNC Symbol;Acc:18794]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13470 Nonsense Available for shipment Available now
sa16275 Essential Splice Site Available for shipment Available now
sa4197 Nonsense Mutation detected in F1 DNA During 2014
sa3209 Essential Splice Site Mutation detected in F1 DNA During 2014
sa24062 Nonsense Mutation detected in F1 DNA During 2014
sa12625 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa13470
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Nonsense 152 1862 4 42
Genomic Location:
Chromosome 22 (position 4001730)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAGTGCGACTGTCCTCCAGGACACCAGCTCAGTACTGAGGCCTCTGCTTG[T/A]GAAGGTACAGTATAGTGTTTGTSTTTGTGTGAAGCTGACNTTTTGGTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16275
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Essential Splice Site 196 1862 6 42
Genomic Location:
Chromosome 22 (position 4003474)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TATGAATTGTGTATATATAAACGGGTAAATTTGTATCTCTTGACGCCTCC[A/C]GATATCGACGAGTGCACCATCATGAACGGYGGCTGCGACACACACTGMAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4197
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Nonsense 211 1862 6 42
Genomic Location:
Chromosome 22 (position 4003522)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCAGATATCGACGAGTGCACCATCATGAACGGCGGCTGCGACACACACTG[C/A]ACAAACTCGGAGGGAAGCTACGAATGCAGCTGCAGCGAAGGATACGCGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3209
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Essential Splice Site 486 1862 13 42
Genomic Location:
Chromosome 22 (position 4007773)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTCAATTCAGCTGAAAKTGAACGAATGCTAATTCTATCGTCTCTTTTCC[A/T]GACATCAACGAGTGTTTCGACCCGGTGAACTGCATCAACGGTGTGTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24062
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Nonsense 759 1862 19 42
Genomic Location:
Chromosome 22 (position 4015574)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTTGTGTGGTAATCAGGCTCCTGGTTTCATCATCGACATCCACACTGGA[A/T]AACCCATCGGTGAGTCCACTTAATAATGATGATAATAATAATACTTCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12625
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Essential Splice Site 927 1862 23 42
Genomic Location:
Chromosome 22 (position 4018025)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTCTGTGCTTCCCCGGGTTCGAGCTCACACATAATAATGACTGCATGGG[T/A]AAGACTATATGCTTTCAGGCCTATTWTAAATRATGCATTTACWGAGAART
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/ntjrlyxm