emilin1b

Ensembl ID:
ENSDARG00000026166
ZFIN ID:
ZDB-GENE-060818-36
Description:
elastin microfibril interfacer 1b [Source:RefSeq peptide;Acc:NP_001038807]
Human Orthologue:
EMILIN1
Human Description:
elastin microfibril interfacer 1 [Source:HGNC Symbol;Acc:19880]
Mouse Orthologue:
Emilin1
Mouse Description:
elastin microfibril interfacer 1 Gene [Source:MGI Symbol;Acc:MGI:1926189]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa36350 Nonsense Mutation detected in F1 DNA During 2016
sa17941 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa36350
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105215 Nonsense 35 406 1 4
Genomic Location:
Chromosome 17 (position 12361003)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGTCTGGAGCGCCTCGTATCCTCAGCAGTATAACCTGTACACGGGCACA[C/T]AGACGCAGAATCAGCCCTTAAACGGGGCGAGGGCGGCGAGCAGACACAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17941
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105215 Nonsense 287 406 4 4
Genomic Location:
Chromosome 17 (position 12307101)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACTTTCTTGTTCCGCCTRTCAGTCKGGAGTGGAAGACCTGAAACGACAA[C/T]AGCAACAAGATCGGGAGAGGATCTCGGYTTTGGAAAAGCAGATTAGTGCC
Associated Phenotype:
Not determined

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