als2a

Ensembl ID:
ENSDARG00000075111
ZFIN ID:
ZDB-GENE-070402-2
Description:
Als2a protein [Source:UniProtKB/TrEMBL;Acc:A8KB94]
Mouse Orthologue:
Als2
Mouse Description:
amyotrophic lateral sclerosis 2 (juvenile) homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1921268]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10766 Essential Splice Site Available for shipment Available now
hu3525 Nonsense Available for shipment Available now
sa17354 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10766
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
ENSDART00000108652 Essential Splice Site 723 949 8 13
ENSDART00000108844 None None 704 None 21
ENSDART00000128630 None None 401 None 4
ENSDART00000135877 Essential Splice Site 58 992 1 25
ENSDART00000143432 None None 126 None 4
Genomic Location:
Chromosome 9 (position 13918073)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCCTYAGTAAACTGAAGAWCCAGATCCTGAGCCCTCTGTTAGCCCGTGG[T/A]ACGTAACACACTTCTTCACTCATCAGTGATCACACATTTTTGTTTGCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
hu3525
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
ENSDART00000108652 Nonsense 838 949 11 13
ENSDART00000108844 None None 704 None 21
ENSDART00000128630 None None 401 None 4
ENSDART00000135877 Nonsense 173 992 4 25
ENSDART00000143432 None None 126 None 4
Genomic Location:
Chromosome 9 (position 13922932)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTAGAATCCAAGGAGAAGAACCCGTCGCTCTATGATCTGTTAGTAAACT[T/A]GTTTTACATGCCCTTGCAACACTTGAATGGGTATAACAGGTTACTTCTGA
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa17354
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108652 None None 949 None 13
ENSDART00000108844 Nonsense 598 704 18 21
ENSDART00000128630 None None 401 None 4
ENSDART00000135877 Nonsense 886 992 22 25
ENSDART00000143432 None None 126 None 4
Genomic Location:
Chromosome 9 (position 13945499)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGATCATTTKGGTTTAATGGACAGGTTCTGCCTAGTACTAAAGACGCCTG[C/A]TTTTCCACTGCTGTTGAAACCCTGCAACAGATCAGGTAAAGAYAGCTTGG
Associated Phenotype:
Not determined

Register

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