ZMP

ENSDARG00000076924

Ensembl ID:

ENSDARG00000076924

Mouse Orthologue:

Als2

Mouse Description:

amyotrophic lateral sclerosis 2 (juvenile) homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1921268]

Alleles

There are 9 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15114	Nonsense	Available for shipment	Available now
sa15705	Essential Splice Site	Available for shipment	Available now
sa12310	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa15114

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108524	Nonsense	87	1658	3	37

Genomic Location (Zv9):

Chromosome 6 (position 7927698)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	9563367
GRCz11	6	9798906

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGAACCAAAYATCATCAGCAGAGCCCATTTTGGAGGCAGTGCTGAGCGAA[C/T]AGCGTGTTGTTTTTGTGGCTGCTGGCTCCGCSCACAGCGGAGTYGTGACG

Long Flanking Sequence:

ATGTATTAGAAGAAAAAGCCTTATTATTATAATTATTATTATTATAATTATAAAAATATGATTTAGTTGTTTAATTTAACAAATTACAATAAAGTACAAATAAAATCATAACTAATCATGTGATTTTGTTAGCTCACATTGTTAGTTTTGTGGCGAACAATTCATCTGTGTCACTGTGTCACAATATAAAAAAAAAAACAGTTGCAGCTTCCGGTTCATGCAGACTTTAACAATTATATTAATATATTTATTTAAAAAGGCTAAAGCATCCTAGGGTTCCCTTAGAAGTTAATTGGGGCCCCCTAGTTTGCACTGGCCCCTGTTTCATAAAAGTTGTTTTTAAAAAATTGATGATTTAGAAAAAAATTATGTTACAATTCAGAAATGTACTAATTTGAATTCTATATTTAGGCGGACAAGTGTACAGTTTTGGTGAGTTGCCTTGGAAGCAGAACCAAACATCATCAGCAGAGCCCATTTTGGAGGCAGTGCTGAGCGAA[C/T]AGCGTGTTGTTTTTGTGGCTGCTGGCTCCGCCCACAGCGGAGTCGTGACGGAGGATGGAGGAGTGCACATGTGGGGAGAAAATGTTCACGGCCAGTGTGGCTTGTTGGGACTGTCTGTTATCCCTAACCCCACCCCTGTGGGTGTGCTTGACTCTGAGGCCACGCCACCTCAGACGGTTAAAATCCTGGAGGTGGCATGTGGCGATCAGCACACCCTGGCTCTTTCAGCCAAGCATGAAGTCTGGGCTTGGGGTAGCGGCTGCCAGCTGGGCCTCAACACTTCAACTTTTCCCGTCTGGAAGCCCCAAAAAGTGGACCACCTATCTGGGAGGCATGTATTACAGGTGGCGTGTGGATCCGCTCACAGCGTGGCTCTCGTACGCTGTCTCCCTCCTCCACAGGAGCCCCGAAAACCCCCTCAAGACAAATGCGGTCAGTGCCATCAGCTGCTCTACACTATGACAGATAAAGAAGACCATGTCATTATCTCTGACGGCCAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15705

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108524	Essential Splice Site	604	1658	11	37

Genomic Location (Zv9):

Chromosome 6 (position 7908884)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	9582181
GRCz11	6	9817720

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCAGATTCCTGACTGTTTTGCTTTTTGTWTSTCCTCTTTTGTCTTTGCGC[A/T]GCTGTCAGATGGGATTCRTGTGTGGGATATTGGGGCAGGTCWGCAGCACA

Long Flanking Sequence:

CTAGGTAATTAGGTTAACTAGGCAGGTCAGGGTAATTAGGCAAGTTATTGTATATTGATGGTTTGTTCTGTAGACTATCGAAACAATATAGCTTAAAGGGGCTAATAATTTTGACCTTAAAATGTTTTTAAAAAAATTAAAAACTGCTTTTATTCCTGCCTAAATAAACCAAACAAGACTTTCTCTAGAAGAAAAAATATTATCAGACATACTGTGAAAATTTCCTTGCTCTGTTAAACATAATTTGGGAAATATTTAAAAAAGAAAAACAAACTCAAAGTGGGCTAATAATTCTGACTTCAACTGTATATGTTTGTTTGTGTGTCATCTCTTTATGAAGTATGAAGTTGTTCTTATCATGTAATGTTTTTATGTATATTGATCTTACTATGAAATTGCCATAAGTGGCTGATGTGTCAATAAATGAATGAATGAATGAATGGACAACATCCAGATTCCTGACTGTTTTGCTTTTTGTTTGTCCTCTTTTGTCTTTGCGC[A/T]GCTGTCAGATGGGATTCGTGTGTGGGATATTGGGGCAGGTCTGCAGCACACTCTCTTATTGGCTGACGGAGACTGTATTCAGCCAATCCTGTACTACAGCGGACAGCAGGTGAAGGAAGTGCCGGAGCCAACAGAGGAAGAGGAGCAGACTGCAGAATACACGCAACAACCTGTGCTGCTGCCCTTCTGTATGAACGTGAGCAAGTCTTCTCATCATCAACATCACTTCAAATCATTTTTTTTTTGTAGGGATGGACGATTAATCGATAAAAAAAAAATGCAGTCTAGATTCAGATACTGATGCAGTGTTGAATATAAACGGTCTCAATTTCATCTTTAATATTCCTTCTATAATCAAACTGTACATTTAAATCTGCGTTAGAACCAGAGTCATTTCTACCAGCATTATTATTATTTCTTATACTGATGTTTTAATTATCACAAAAGTACTGGAATAATAGTTATGTCATGAACACTGATGCTTACATGAAGATTTAGTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa12310

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108524	Essential Splice Site	1467	1658	31	37

Genomic Location (Zv9):

Chromosome 6 (position 7879804)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	9611243
GRCz11	6	9846782

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGRTCGGCACAGAYGCTGATGGAAAGCTGCTGGAGTCTCCTAAACCTGGG[T/A]ATGGAAAATAGTATTAAAGGACTCTAAGGGTGGTCTATGCAACWGCAGTT

Long Flanking Sequence:

CCGTCGGTACCTGGTGAAGGTAAACATTGTATTTATTAACTGATGCTAAACCACACTTTCCTCCAACACATTAGCTTCCTAGTGTATATTTACCACTTTTGTACCACTGATTATTTTGCTCTGTATATCACAGACGCATGATGTGTGTTTTATTTTAGGCATGTGATACTCCTCTGCATCCTCTGGGTCGGCTGGTGGAGACGCTGGTTTCGGTATACCGGATGACGTATGTTGGTGTTGGAGCAAACCGCAGGTTATTACCGCAGGCCGTCAATGAGATCACGTCCTATCTCAGCCGTATCTTCCAGCTCGTCAGGTAAGATGATCTGTAAAACAGAAAAGGAAGTGTGCTTTTCCATGTCTTTTAAATAACATGCTTGTTTGTGTTTAGATTTCTCTTTCCCGAACTGCCAGAAGAAGGAGGTTCACTAGCCGACCCTCCAAAAGAGAAGGTCGGCACAGATGCTGATGGAAAGCTGCTGGAGTCTCCTAAACCTGGG[T/A]ATGGAAAATAGTATTAAAGGACTCTAAGGGTGGTCTATGCAACTGCAGTTGTTCATATTACAATTAGCTTTTAACTGGAATGTAAAAAAAAAACATTCTTCATTCATTTTCCTTCGGCTTAGTCCCTTTATTTATCAGGGGTCGCCACAGCGGAATGAACCGCCAACTTATCTAGCAAATGTTTTACCCAGTACTGGGAAACATCCACACACACTTGTTCACACACATACACTACGGCCAGTTTAGTTTAAGCAATTCACCTGTATCTCATGTCTTTGGACTGTGAGGAAACTGGAGCACCCGGAGGAAACCCATGCAAACATGGGGAGAACATGCAAATCTCACAAAGAAATGCCAACTGAGCCAGCCGGTACTCGAGCCAACGACCTTCTTGCTGTGAGGAGACAGCGCTAACCAATGAACCACTGTATCGCCTTGGTTAATCATAATTATGGCATTATAATTCCATGAAATTAAGATTATAGGTGGAGGTAACGAAT

Associated Phenotype:

Not determined