ZMP
lmna
Ensembl ID:
ZFIN ID:
Description:
prelamin-A/C [Source:RefSeq peptide;Acc:NP_694503]
Human Orthologue:
LMNA
Human Description:
lamin A/C [Source:HGNC Symbol;Acc:6636]
Mouse Orthologue:
Lmna
Mouse Description:
lamin A Gene [Source:MGI Symbol;Acc:MGI:96794]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa13189 | Nonsense | Available for shipment | Available now |
sa10537 | Nonsense | Available for shipment | Available now |
sa22872 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13189
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 |
---|---|---|---|---|---|
ENSDART00000024919 | Nonsense | 8 | 659 | 1 | 12 |
ENSDART00000145087 | Nonsense | 8 | 659 | 2 | 13 |
ENSDART00000024919 | Nonsense | 8 | 659 | 1 | 12 |
ENSDART00000145087 | Nonsense | 8 | 659 | 2 | 13 |
The following transcripts of ENSDARG00000013415 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 32866644)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 30605159 |
GRCz11 | 16 | 30563086 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTCTAGTATCAGTAGTTYCAGACAACCATGGAGACTCCAGGTCAGAAA[C/T]GAAGCAGCCGCGGTGGGGTGACCAATGTCCTGTCCCCYACCCGCATCTCT
Long Flanking Sequence:
TTAAGATCTTATCTGGGTTTGTGTATTCAAGAGGGAACATTTTGGAGATTTATTTGAATGTTTATTCAGGAAAAGTTTGTCGGGATGCTCCTGGATTTTTTTTTTTGAAAGAGAGATAAACCAAATAGACTTATTTTTGCAGCATTTGTGTTTATTTCTTTTTTATTAGCACAATAAATCACAGCATCATTTTTAAACAGACAGACTTTGACTTTAAAAGATACCTGAACATATTATTTATGAAAAAATTCTATCCTATATTCAAACACAGTCATTGTTCAATTTATTGAAACCCTCTCCCTATTCATTTAAATGAGAGGTTGGGTTTTTGGCAACTTTTCCAAACAGCATCTGATTTATGCTCTTATTTAGAAAGGGTTGTAATAATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTAGTATCAGTAGTTCCAGACAACCATGGAGACTCCAGGTCAGAAA[C/T]GAAGCAGCCGCGGTGGGGTGACCAATGTCCTGTCCCCTACCCGCATCTCTCGATTGCAGGAAAAGGAGGACTTGAGCAACCTGAATGACCGTCTGGCGGTCTACATCGATAAGGTTCGCTCTCTGGAGGTGGAGAACGCAGGTCTGCGTATGCGCATCACTGAATCCGAGACGGAGATCAGCCGGGAGCTGAGTGGCATGAAAGCGGCGTACGAGGCTGAACTCGCAGATGCCAGGAAAACACTGGACTCGGTGGCCAAAGAACGAGCCAGACTGCAACTGGAGCTCAGCAAAGTGCGTGAGGACTACAAGGAGCTGAAGGCCAGGTATGTGTTCATTTTTTTTTTATGTAAAAGTTTTATACATTGATATTAGTAAGAGTATGAAGGCTATTAGAAAGTTGAATGTTATCCCTATATGGAGTTTTGTTTTCAGTATTTATAGGATACAATGTAATGATATCACAAAAACAAGCATGCTATTTTTCTGAATTTCAGTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10537
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 |
---|---|---|---|---|---|
ENSDART00000024919 | Nonsense | 8 | 659 | 1 | 12 |
ENSDART00000145087 | Nonsense | 8 | 659 | 2 | 13 |
ENSDART00000024919 | Nonsense | 8 | 659 | 1 | 12 |
ENSDART00000145087 | Nonsense | 8 | 659 | 2 | 13 |
The following transcripts of ENSDARG00000013415 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 32866644)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 30605159 |
GRCz11 | 16 | 30563086 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTCTAGTATCAGTAGTTYCAGACAACCATGGAGACTCCAGGTCAGAAA[C/T]GAAGCAGCCGCGGTGGGGTGACCAATGTCCTGTCCCCYACCCGCATCTCT
Long Flanking Sequence:
TTAAGATCTTATCTGGGTTTGTGTATTCAAGAGGGAACATTTTGGAGATTTATTTGAATGTTTATTCAGGAAAAGTTTGTCGGGATGCTCCTGGATTTTTTTTTTTGAAAGAGAGATAAACCAAATAGACTTATTTTTGCAGCATTTGTGTTTATTTCTTTTTTATTAGCACAATAAATCACAGCATCATTTTTAAACAGACAGACTTTGACTTTAAAAGATACCTGAACATATTATTTATGAAAAAATTCTATCCTATATTCAAACACAGTCATTGTTCAATTTATTGAAACCCTCTCCCTATTCATTTAAATGAGAGGTTGGGTTTTTGGCAACTTTTCCAAACAGCATCTGATTTATGCTCTTATTTAGAAAGGGTTGTAATAATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTAGTATCAGTAGTTCCAGACAACCATGGAGACTCCAGGTCAGAAA[C/T]GAAGCAGCCGCGGTGGGGTGACCAATGTCCTGTCCCCTACCCGCATCTCTCGATTGCAGGAAAAGGAGGACTTGAGCAACCTGAATGACCGTCTGGCGGTCTACATCGATAAGGTTCGCTCTCTGGAGGTGGAGAACGCAGGTCTGCGTATGCGCATCACTGAATCCGAGACGGAGATCAGCCGGGAGCTGAGTGGCATGAAAGCGGCGTACGAGGCTGAACTCGCAGATGCCAGGAAAACACTGGACTCGGTGGCCAAAGAACGAGCCAGACTGCAACTGGAGCTCAGCAAAGTGCGTGAGGACTACAAGGAGCTGAAGGCCAGGTATGTGTTCATTTTTTTTTTATGTAAAAGTTTTATACATTGATATTAGTAAGAGTATGAAGGCTATTAGAAAGTTGAATGTTATCCCTATATGGAGTTTTGTTTTCAGTATTTATAGGATACAATGTAATGATATCACAAAAACAAGCATGCTATTTTTCTGAATTTCAGTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22872
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000024919 | Essential Splice Site | 211 | 659 | 4 | 12 |
ENSDART00000145087 | Essential Splice Site | 211 | 659 | 5 | 13 |
The following transcripts of ENSDARG00000013415 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 32839636)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 30578151 |
GRCz11 | 16 | 30536078 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTAAAGACATGCTAAATCTGATCTCGCTACTGTAACCTTTTTTCAACA[G/T]GAGCTCCGTGAGTCTAAGCGCAGATATGAGTCACGTGTGGTGGAGATTGA
Long Flanking Sequence:
ATTATTTTTTTTATTCTAGTTGAAATAAAAATAAAAAAACTTTACCCAAAAGTAAAATATAATGAGAGATACTGTGGAAAAAGCCCTTGCTCTGTTAAACATGACTTAAAAAATATTTGATAAGGAGAAAAAATTCACAGGAGGCCTAATAAGTTTATTTACTCAGGAAAAAAGGCAAACATGATTTTGTTAATTTTTTTTTTTTTTTTCAAAGAAAAATTTGAGTTACAATGCGAGGATATGTTTGTTACAGTTGGAGGGCAGTCTAAACGATGCAAAGAAGCAGCTGCAGGATGAAATGCTGCGACGTGTGGATGCCGAAAACCGAATCCAGACACTGAAAGAGGAGCTGGAGTTCCAGAAGAACATCTACTCTGAGGTCTCACAAACACACAGCTCTTCTGTGCAAATAACTAGACTAACTGCTAACATATTTAACATCACTTACTGGTTTAAAGACATGCTAAATCTGATCTCGCTACTGTAACCTTTTTTCAACA[G/T]GAGCTCCGTGAGTCTAAGCGCAGATATGAGTCACGTGTGGTGGAGATTGACAGCGGCCGCCAGCAGGATTATGAGAGTAAACTGGCCGACGCTTTAACTGACCTCCGCAACCAACATGAAGAGCAGCTTCGCATCTACAAGGAAGAAATCGAGAAGACCTACAACTCCAAGGTAACTGAGCACTGAGGCCATGTTTACATTAGTGCGTTTTTAATATGATTCTTTACCAAAGCAGAATTTTTACTATGTTTCAGAAAACATCTTCATGCACACTACATAACAGAAAATGCTTTTTAGTGGCTAGCTAGTACAAAATTGTAGGCTATGTGCAATTATTAATTAAAAAACAAATTATATAGGCGTTCAACTTGTGTGTAATTGCATTGAGAAAAAAGAAAAATCACTTTTAAACTTTTTTTATAATGGAATTCCTTATAAAGTTTATAGTAGCATTTTACTAATATTTGAACTGGATCAAAACATTAGATGGGTTTCTATCA
Associated Phenotype:
Not determined