ZMP
ENSDARG00000018566
Ensembl ID:
Human Orthologue:
FLNC
Human Description:
filamin C, gamma [Source:HGNC Symbol;Acc:3756]
Mouse Orthologue:
Flnc
Mouse Description:
filamin C, gamma Gene [Source:MGI Symbol;Acc:MGI:95557]
Alleles
There are 9 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24724 | Nonsense | Available for shipment | Available now |
| sa18138 | Nonsense | Available for shipment | Available now |
| sa15040 | Essential Splice Site | Available for shipment | Available now |
| sa38134 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24724
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000046218 | Nonsense | 53 | 2719 | 1 | 48 |
Genomic Location (Zv9):
Chromosome 25 (position 36081461)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 34515729 |
| GRCz11 | 25 | 35020687 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGACGCGCCGTGGAAGAAGATCCAACAGAACACCTTCACCAGGTGGTG[C/A]AATGAACACCTCAAATGCGTTAATAAGGGCGTCACTGACCTGCAGAAAGA
Long Flanking Sequence:
TCATTTCAAACAGAGTTTCACTCCTGCAAACTGCGCAGAGACTTTTCCTATCTGAAGAAGAAAAAAAGTGATATTCCTCCGAGTGTCCATTAAGAAGAAGCGACTACATTCAGCAAGGGGTTGAGAATTAAAAACGCGAGGCCGACCGCCTTGTAAACCGTAAATCGGATAATCTATCATCGTCCTGACAGAAGATCACTTTTCGCAAGTGTCCGCGAAAGCTCGTCTGTTTTTCTGCAACTTTTTGATCTGCTGAACGGCGCGCGCGCTCCTGACACTCACGCGCAAAAGTGACGAGCTGCGAACTTCCAGCGTTATTAGTATAAAAGCAGCAGTCCCACCATGAGCAATTACACACATTTAGACGACCTGCCGCCGCAGTATTACCAAGGCACAGACCTTGGAGAAGAGGAAGAGGAGGAGATGCCGGCGACCGAGAAAGACCTGGCCGAGGACGCGCCGTGGAAGAAGATCCAACAGAACACCTTCACCAGGTGGTG[C/A]AATGAACACCTCAAATGCGTTAATAAGGGCGTCACTGACCTGCAGAAAGACCTGGGCGATGGCCTCAAACTCATCTCGCTTTTGGAAGTCCTCAGTCAGAAGAAAATGTACAGAAAACATCACGTCAGGCCAAACTTCAGACAGATGAAGCTGGAGAACGTGTCGGTGGCGCTGGAGTTTCTGGACAGGGAGAGAATCAAACTGGTGTCAATAGGTAAGATCTGCTCATCTTCAGTCTAACTACTGTTTGTGATAACAAAATATTAGCAAATTGAGAGTTTATTGTAATTGTGATTCAAGTTTTCCCGCTAAATTATGCTTTTGAATTGCATTATGGGATCTTTATCTTTTCTAAGTTTTTAATGTTGACATAATGATAAGCCGTTATTTTCTGTTAATATACATACTTAATTCTCTATATATTATTTGTTAAACTACATATCGTCTCAAACTATTAAAAAAGTCACGCTTTGAGAGTTGAGATATTTTGTCAATGTCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18138
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000046218 | Nonsense | 898 | 2719 | 18 | 48 |
Genomic Location (Zv9):
Chromosome 25 (position 36090761)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 34525029 |
| GRCz11 | 25 | 35029987 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATTCAAAGTCAAGGTGGACCCATCTCATGATGCTGGTAAAGTCAGAGCT[G/T]AAGGTCCTGGAATTWACAAGACAGGTGGGTGTMATCCACAACTTTAAGAA
Long Flanking Sequence:
CCCTGACAAAGTCAAGGTCTATGGACCTGGAGTTGAGAAAACCGGCCTGAAGGCAAATGAGCCCACTTACTTTACTGTCGACTGTAGTGAAGCTGGCCAAGGTTTGCATAATGAGTTAATTTTTACATGGCATAAATAAATGAGTGTTAGTATGGCTAACTAGTTGTACTATCCTTTAGGAGATGTCAGCATTGGGATCAAATGTGCCCCTGGTGTGGTGGGTCCAGCAGAGGCGGATATAGATTTTGACATCATAAAAAATGACAATGACACCTTTACTGTCAAGTATACACCTCCTGGCCCTGGCCGTTACACCATCATGGTTGTCTTTGCAGATCAGGTAAAGCAGTGGACGAACATGCTTCTTGCTTAGACCCAATGGTGCACTAATGCTAATTGAACTCGTCATTTCAAAAAAAAAAATCTTTACACAGGAAATCCCCAGCAGCCCATTCAAAGTCAAGGTGGACCCATCTCATGATGCTGGTAAAGTCAGAGCT[G/T]AAGGTCCTGGAATTAACAAGACAGGTGGGTGTAATCCACAACTTTAAGAACGTGAGCCCTGGAGAAATTCCAATCAACTGACACAGCTCTACTTTACAGGCGTTCAGGTGGAAATTCCAACCCATTTCACCATCTTCACCAAAGGAGCAGGAAAGGCAAAACCAGAGGTGCATTTCAAAACAGCTGCCAAAGGAAATGCTGTAAAGGATTTTGAGATCATTGATAACCATGACTACTCCTACACTGTGAAGTACACAGCTCTTCATCAGGTCAGGGTTCGCTGTCGTCTGTTGTATTTTGAGTTTGATTTGAACAAATTTTATTTATGGAAGTAACTGTTATGTCTTATTAAATGCCAAATCTTTCGCAAATAGGGTGAGATGGCTATTGTGGTCACACACGGTGGGGATCCCATTCCCAAAAGTCCTTTCAAGATCACAGTCGCCCCTTCACTTGATCTTGGCAAAGTCAAAGTTCAAGGTCTTAATGAAAGTAAGCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15040
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000046218 | Essential Splice Site | 906 | 2719 | 19 | 48 |
Genomic Location (Zv9):
Chromosome 25 (position 36090859)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 34525127 |
| GRCz11 | 25 | 35030085 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAACGTGAGCCCTGGAGAAATTCCRATCAACWRACACAGCTCTRCTTTAC[A/T]GGCGTTCAGGTGGAAATTCCAACCCATTTCACCATCTTCACCAAAGGAGC
Long Flanking Sequence:
AAGGTTTGCATAATGAGTTAATTTTTACATGGCATAAATAAATGAGTGTTAGTATGGCTAACTAGTTGTACTATCCTTTAGGAGATGTCAGCATTGGGATCAAATGTGCCCCTGGTGTGGTGGGTCCAGCAGAGGCGGATATAGATTTTGACATCATAAAAAATGACAATGACACCTTTACTGTCAAGTATACACCTCCTGGCCCTGGCCGTTACACCATCATGGTTGTCTTTGCAGATCAGGTAAAGCAGTGGACGAACATGCTTCTTGCTTAGACCCAATGGTGCACTAATGCTAATTGAACTCGTCATTTCAAAAAAAAAAATCTTTACACAGGAAATCCCCAGCAGCCCATTCAAAGTCAAGGTGGACCCATCTCATGATGCTGGTAAAGTCAGAGCTGAAGGTCCTGGAATTAACAAGACAGGTGGGTGTAATCCACAACTTTAAGAACGTGAGCCCTGGAGAAATTCCAATCAACTGACACAGCTCTACTTTAC[A/T]GGCGTTCAGGTGGAAATTCCAACCCATTTCACCATCTTCACCAAAGGAGCAGGAAAGGCAAAACCAGAGGTGCATTTCAAAACAGCTGCCAAAGGAAATGCTGTAAAGGATTTTGAGATCATTGATAACCATGACTACTCCTACACTGTGAAGTACACAGCTCTTCATCAGGTCAGGGTTCGCTGTCGTCTGTTGTATTTTGAGTTTGATTTGAACAAATTTTATTTATGGAAGTAACTGTTATGTCTTATTAAATGCCAAATCTTTCGCAAATAGGGTGAGATGGCTATTGTGGTCACACACGGTGGGGATCCCATTCCCAAAAGTCCTTTCAAGATCACAGTCGCCCCTTCACTTGATCTTGGCAAAGTCAAAGTTCAAGGTCTTAATGAAAGTAAGCATTTTAACTCAACACTTTTCTTACTTTATAAAGAATTATACTTTATTAAGAATTATACTTTATAAGAATTAAAAGTCAGCTTAATCAATTTCAAATTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38134
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000046218 | Nonsense | 2670 | 2719 | 48 | 48 |
Genomic Location (Zv9):
Chromosome 25 (position 36101222)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 34535490 |
| GRCz11 | 25 | 35040448 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTCTTTCTTTCAGGTACAAACATGCTCATGGTTGGTGTCCACGGTCCT[A/T]GAACTCCATGTGAAGATGTGACAGTCAAGCATATGGGAAACAAGCTTTAC
Long Flanking Sequence:
GATCAAGGATGCCTAAACTCGCTCCTGGAGGGCCGGTGTCCTGCATAGTTTAGATCCAACCCCAATCAGAGACACTTGGGCTAGCTAATCAAGCTCTAAGTAGGTTTGCTAGAAATGTCCTGGCAGGTGCGTTGAGGCAAGTTGGAACTGTACTATACAGGACACCAGCCCTCCAGGACCGGGTTTGGGCAGCCTTTGTCTAAACCACAGCTGTCAAATCCAGTTCCTGGAGGGCCGCAGCTCTGCACAGTTTAGTTCCAACCCTAATTAAACACTTAATAAAAGTAATTGAGCCCTTCAGTTTGCTTTGAAACCTAGAGGTAATTGTGTTGAAGCAGGGTTGGAACTAAACTGTGCAGAGCTGCGGCCCTCCAGGAACTGGATTTAACACCCATGCCAAAGATTGTCACCCTAATTATGCAAAGTCTTTCTTACTTTCTTTCTTTCTTTCTTTCTTTCTTTCAGGTACAAACATGCTCATGGTTGGTGTCCACGGTCCT[A/T]GAACTCCATGTGAAGATGTGACAGTCAAGCATATGGGAAACAAGCTTTACAACGTGACCTACACCGTGAAGGAGAAAGGAAACTATGTAGTGATTGTTAAATGGGGGGACGAAACTATACCAGGGAGTCCTTTCCATGTAAGCGCTCCTTAAACACAAAGTCAAACGCTTAGAGTTTCTAATTCAGAAAAAAAGCTTAATCCAGGGAAAAGAATGTGGAGTAAAAGGCTTATTTTAAGACTGAATCTTATTTCAGAGGCTAATGACTTTTATTTAATGCTACCCTGTTTGACGCAAGTGTATTTTAATACTGTTTCGGATGCTGTTTATTGTAAGGGTGACAATTTAAGTTTAATAATAATTAAATGGGTATATCCACCTAATTCTGTTTTGTTTAACCACCTAAAAAGAATATATGTGTATTTTACTGAGGGAGATTTATTGTTCTTCGAGGCACTTTTGATGGTGATGGGACATCACAGCAATATTGGTTTTGTGTTC
Associated Phenotype:
Not determined