ZMP
C9orf172 (1 of 2)
Ensembl ID:
Description:
chromosome 9 open reading frame 172 [Source:HGNC Symbol;Acc:37284]
Human Orthologue:
C9orf172
Human Description:
chromosome 9 open reading frame 172 [Source:HGNC Symbol;Acc:37284]
Mouse Orthologue:
Gm996
Mouse Description:
predicted gene 996 Gene [Source:MGI Symbol;Acc:MGI:2685842]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40354 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa15509 | Essential Splice Site | Available for shipment | Available now |
| sa33524 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa12476 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa40354
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111759 | Nonsense | 86 | 991 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 5 (position 5496399)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 5034189 |
| GRCz11 | 5 | 5526548 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTCACAGCCAACGGCTGCTGAGATGCCTGCTGAAATTGCGGTGACGGAA[C/T]AAAAGCGGAGGACTAGATCTAGAAGTGCCTCACGGGTTCAGACCAGCCTA
Long Flanking Sequence:
AAAGTAAAACTAATCTTGTTATGTTTTCTTGCTCTCTTACAGGGAACCTTAACCTAAACAAATTTAATGGGGAAAATAAGAAGAGTCTCATTAAGATGACACGCACAGATCCACCTGACATACTAGTATCAACTGTGTATCAAGATGTCAAAGTGAGTTCCCTCTCAACCCACTCCAAAGCCTGTCATCCCTCAAAACAATGTGATTCCCCATCTGTCAGCAAACTGGAGAACACTCGAAAAAAAAGCAAAAACAAAAAGAGGCACTGCCGTAGCTTTGACACTGAGTCTATGGACAAACTCCGATATCATACAATAGCAATGGAGTACCCATACAGAAGGGCTGAAAGATACGCGGCCAATCCAGAGGTTGCCTGGAACGCCTTAGGTCGCCAACAAGGGCATGGACTCCACCGGTTTTCTTCCCCAGACATATTTAGCTACCGTCTCACCTCACAGCCAACGGCTGCTGAGATGCCTGCTGAAATTGCGGTGACGGAA[C/T]AAAAGCGGAGGACTAGATCTAGAAGTGCCTCACGGGTTCAGACCAGCCTAACTCCTGTATCTTTTGATGCTTCCCCGCCAGTGGCAAGAAGGGGTCGGGAGGCTCAAAGGGCACACAGAAACAGTCAGCCAAGGCCAGAAGTTTCCCCAAGAAGAGAGTCTTCCTATGGTGCCACGCGAGCACATGTAAACGAAGTACACCCTGTCAAACTGCAGCCGCAAAGGAGTGATACAAGCAGGTATTCCCCTGTATATGTGCCTGAAGGTTATGATGAAGGAAGGCCAGAAAAGCCTGCCACTAGTCCTCATGTTCGGTGCCGGGTAGACATCAAACCAGATGAGTCGGCCATGCAGCAAGGTGGCCGAAAGGCAGCTACACCCCAAGTGGACATACCTTGGCAGAAGTATCCAGGCAGTGGCAGTAGGAGTCTGACAGTGCCTCGCCATTTCTCCACTTCAAGAACTCCAACTCCAACTGAATCCTACATGGGAGAATACAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15509
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111759 | Essential Splice Site | 321 | 991 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 5 (position 5495650)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 5033440 |
| GRCz11 | 5 | 5525799 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTTATTATYAAGATGACCGATACAGCATTCCTAGCCAACCCTACTCACC[T/G]AAGGTACAATATGTACAGGWTCCAAGGACTCACATTGTTCATACTGTACC
Long Flanking Sequence:
GTATATGTGCCTGAAGGTTATGATGAAGGAAGGCCAGAAAAGCCTGCCACTAGTCCTCATGTTCGGTGCCGGGTAGACATCAAACCAGATGAGTCGGCCATGCAGCAAGGTGGCCGAAAGGCAGCTACACCCCAAGTGGACATACCTTGGCAGAAGTATCCAGGCAGTGGCAGTAGGAGTCTGACAGTGCCTCGCCATTTCTCCACTTCAAGAACTCCAACTCCAACTGAATCCTACATGGGAGAATACAGGCAGGCGTACCAGTATTCCCAAAGTATGCCAAATAGCTACATGCAGCCTATGGAGATCCCTTTACAAAAGGTGGTCTCACCACGGGAGCCAAGGGAACACTATGGACGGGAACGAAGGGCTCATTCAAGCCCCAATGTGCCAACTAAATTCTTCTATGCAGAGGACTTAGGGAAGTATGGATCTTCAGCGCCATCAAGGACTTATTATCAAGATGACCGATACAGCATTCCTAGCCAACCCTACTCACC[T/G]AAGGTACAATATGTACAGGATCCAAGGACTCACATTGTTCATACTGTACCAACCCGGCCATATTATACAGAAGTCGACCCCTACCATTACTCTGGACAACATGTGTATGCGAAATCCTATGCTGCAAGTGAACCAGGGGCGTATATAATTCAGACACCTCCAGGAAGGACTTTATATGGCGATGACCCAAGGACATATCAGATTCAAACAGCCCCTCCTCGGATCTTCTACATGGCTGACCCCTACACTCCACAAATGGAGCATCATATTCCAGCCAAGGCATATTACACTGAAGGAAGACGACATGCCCGTGTTGTGCAGCCACAATCTGAGGACTGGTACGGCTCAGATGTTTCTGGCTACTCTAGCCATTACCCGTCCTCTTATGTCTCACAGATTACTCCCACAAGAGCTAGGCAAGAGCCAAAGCTCACAACTTGGTATGCCAATCCATGTATGGAGCCAGCAAAAACCGTAACAGACCCAAGATCGTATTCAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33524
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111759 | Nonsense | 444 | 991 | 5 | 7 |
Genomic Location (Zv9):
Chromosome 5 (position 5495209)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 5032999 |
| GRCz11 | 5 | 5525358 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACAGATTACTCCCACAAGAGCTAGGCAAGAGCCAAAGCTCACAACTTG[G/A]TATGCCAATCCATGTATGGAGCCAGCAAAAACCGTAACAGACCCAAGATC
Long Flanking Sequence:
CCATCAAGGACTTATTATCAAGATGACCGATACAGCATTCCTAGCCAACCCTACTCACCTAAGGTACAATATGTACAGGATCCAAGGACTCACATTGTTCATACTGTACCAACCCGGCCATATTATACAGAAGTCGACCCCTACCATTACTCTGGACAACATGTGTATGCGAAATCCTATGCTGCAAGTGAACCAGGGGCGTATATAATTCAGACACCTCCAGGAAGGACTTTATATGGCGATGACCCAAGGACATATCAGATTCAAACAGCCCCTCCTCGGATCTTCTACATGGCTGACCCCTACACTCCACAAATGGAGCATCATATTCCAGCCAAGGCATATTACACTGAAGGAAGACGACATGCCCGTGTTGTGCAGCCACAATCTGAGGACTGGTACGGCTCAGATGTTTCTGGCTACTCTAGCCATTACCCGTCCTCTTATGTCTCACAGATTACTCCCACAAGAGCTAGGCAAGAGCCAAAGCTCACAACTTG[G/A]TATGCCAATCCATGTATGGAGCCAGCAAAAACCGTAACAGACCCAAGATCGTATTCAAGATCTTGGGATAACATCTTAGATACCCACGTAGAACGGGAGCAGCCTGTACCTCGAGGGAAAAGTGATGAGAATCTCCTTTGTCAAGGGGCACAAACTTCAAGCGAAAGACCAAAACCTGTGGTTGTCAACCTTTCCAGCTCACCAAGGCGTTACGCTGCACTGTCATTATCAGAAAACTCTTTGATTGACAAAAGTCCAACCGAGGCCATGAGCTCCTCAAGTAAACTGTGGTTTGTCACACCTGAAATTACAATCACGGACAATGATATCAGACAGGGCAATCTTGGCAAACCAGAAGCACGCTCTGCAAGTTGGGATGTGCTAGATTCAAAAAGTGCCCAAAATCAAGAAGCACCTCAACGTGACGCAAAATCCCGCTCTGGAGAGTCTACCAAAGAGAAAACGCACAGCAGCACATCCCTACAGCAAAGCTTAGAGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12476
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 |
|---|---|---|---|---|---|
| ENSDART00000111759 | Nonsense | 622 | 991 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 5 (position 5494632)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 5032422 |
| GRCz11 | 5 | 5524781 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCATCGATTACAAACCTCCAGCTAGGAGGACCAGCGAAGATTTGCTTGAT[C/T]AACTCAAAAAGCTGATTGATGAAGAAGAAGCKGWATCTTCAGCAAGAAAA
Long Flanking Sequence:
TAGATACCCACGTAGAACGGGAGCAGCCTGTACCTCGAGGGAAAAGTGATGAGAATCTCCTTTGTCAAGGGGCACAAACTTCAAGCGAAAGACCAAAACCTGTGGTTGTCAACCTTTCCAGCTCACCAAGGCGTTACGCTGCACTGTCATTATCAGAAAACTCTTTGATTGACAAAAGTCCAACCGAGGCCATGAGCTCCTCAAGTAAACTGTGGTTTGTCACACCTGAAATTACAATCACGGACAATGATATCAGACAGGGCAATCTTGGCAAACCAGAAGCACGCTCTGCAAGTTGGGATGTGCTAGATTCAAAAAGTGCCCAAAATCAAGAAGCACCTCAACGTGACGCAAAATCCCGCTCTGGAGAGTCTACCAAAGAGAAAACGCACAGCAGCACATCCCTACAGCAAAGCTTAGAGCAACTCGACGAGCTTTTAGCTGACCTTGTCATCGATTACAAACCTCCAGCTAGGAGGACCAGCGAAGATTTGCTTGAT[C/T]AACTCAAAAAGCTGATTGATGAAGAAGAAGCGGTATCTTCAGCAAGAAAAGATTCGACTCCAGGTTCTGAAAGCGGCATGCCCCTTGACAAACAACCCACGTCAATAAAGATAGATCCTGACACACTAAGAGACACCGATGGGAGTTGTGATGGGCTGAGAAGTACAGAGGAGTGCTCCCCTGACCAGAGTCCAGATGAGGACGACACAATGATGTGTTCAAACAATAAATGCCGTCGGACTGAGACCTTGTTTAATGCCTGCCTCTACTTTAAATCCTGCCACAGCTGCTATACCTACTACTGCTCTCGCAATTGCCGCCGTGAGGACTGGGATATCCACAAAGAGAGTTGCCTGTATGGGAGAATCGGAAGCGTGTGTCGCCACATTATTAAGCACTGTCGAGAAACCACAGAGGTCCACAAAGCTTTCTCCCGTATAGCCAAAGTGGGATACCTGTCTCGGGGCAGGGGGGTCTTGTTTTTGGGATTCCCAAATCCA
Associated Phenotype:
Not determined