ZMP
LOC799850
Ensembl ID:
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 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15525 | Nonsense | Available for shipment | Available now |
hu7912 | Missense | Available for shipment | Available now |
sa12539 | Nonsense | Available for shipment | Available now |
sa12549 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15525
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 |
---|---|---|---|---|---|
ENSDART00000112170 | Nonsense | 39 | 1057 | 1 | 2 |
Genomic Location (Zv9):
Chromosome 8 (position 32097123)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 31239849 |
GRCz11 | 8 | 31249081 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTAACTCWGGGCTCTCAAAGTATTCTGGATCTTCGAAGCAAWGTGATTCA[C/T]AAATGGTWGGCCCACTGGATCAAAACTTCGAAACAATTAACAAAAGACAT
Long Flanking Sequence:
TTGCAACTATGTATTAAAAAATGACATACATGTACATCTCTTCTGTGTTACTGGGCATATGCAAGGTCATTGTTAGCCTGAGAGAAAGGCGATGATGATTTCTAGGGGCCCATGACAATTTCAAAAGTGGGGGTTTATTAAATATGCATATTTGTGATCAGTATTATAATGGCTTTTAATATTTGCGCATAATAGAACAGTTGTGGTCCAGTGAATGCCTTGTGGAAGCTCTGTATATATTTCATCTAAATTTAAAATTGATCCTTTATCCATAGATTTCACATGTACAAATGGCTGATTTAAGAAAAAGAATCAACTAATAAACTTGCTTTTGATTCTTTCTAGGAGACACAGACTGAGGGGAAAATAACGGGGGTCCATTTAAAATGACACGTACGGACCCTCCTGACATATTAACATCAACTTTGTATGAAGACATAAATATTGGCCCTAACTCTGGGCTCTCAAAGTATTCTGGATCTTCGAAGCAATGTGATTCA[C/T]AAATGGTTGGCCCACTGGATCAAAACTTCGAAACAATTAACAAAAGACATTGCCGAAGCTTTGACTTCATCGAGTCACTGGATGACCCAAAGGACATTTCATCGTCCATGGAGTATCCTTACAGGTCTGAACAGCAACCAGTAAATAAGGATGCAGTCTGGAATGGCATTGGGCAGCAGGGACACCTACGTTTTTCCTCACCAGATCTGTTCAACTCGAGACTGTCCCATCAAATCAGTACAGACAAAAGCAATGAGACAGCAAGGGCTAGTGTTCATGGCAAGCCTCGCTCAAAAAGTACACCTAGAGTTCGAGCCACCCTAACCCCAGTACCCATCACAGTTTCTCCTCCTGCAACCACAAGGCGTCGATCTCCAGTGGACCCTCAAAAAAGAATAGAAGGTTTGCCAAACCGAGAAGCCTCCCACTCAAGCAGGGCTTTAGTTAATGAGGTTCATCCGATAAAGTTACAACCACACACACCCCTCTATGTTTCTGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
hu7912
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 > A
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112170 | Missense | 305 | 1057 | 1 | 2 |
Genomic Location (Zv9):
Chromosome 8 (position 32097923)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 31240649 |
GRCz11 | 8 | 31249881 |
KASP Assay ID:
554-2397.1 (used for ordering genotyping assays)
KASP Sequence:
TATCCCAACAGCTTGTCAAGTAGTTACATTCATTCTGGTGAGATCCCTTT[T/A]GGAAGGACCTCTCCTAGAGATCCAAGGGAGTACAGAACATTGTCTAATCC
Long Flanking Sequence:
ACACCTAGAGTTCGAGCCACCCTAACCCCAGTACCCATCACAGTTTCTCCTCCTGCAACCACAAGGCGTCGATCTCCAGTGGACCCTCAAAAAAGAATAGAAGGTTTGCCAAACCGAGAAGCCTCCCACTCAAGCAGGGCTTTAGTTAATGAGGTTCATCCGATAAAGTTACAACCACACACACCCCTCTATGTTTCTGATTGTTTTGAGGAAAACAGACAAGAAAAACAAGCTAACACTCCCCATGTCAGGTGTCGTGTTGATATTAAGCCAGATGCCTCAGTTCTCCAGCACACAGCACGGAAGATACCTACTCAAAGAGGTAATGTTCCCTGGCAGCTTTCCTCAACATCATCAATCAGAAATGTCTCATTTCCAAGTCAGACATCCACTTCAAGAACACCAACCCCTAGTGAGTGTTACAACATGGACTACAGGCAAGCATATCAGTATCCCAACAGCTTGTCAAGTAGTTACATTCATTCTGGTGAGATCCCTTT[T/A]GGAAGGACCTCTCCTAGAGATCCAAGGGAGTACAGAACATTGTCTAATCCTAACATCCCTACCAAGTTCTTTTACACAGATGATCCCTGCAGGTATCCCATTCAGCCACCTAGGACTTATTATCAGGATGACCAGTACAGTGTTATCAGCAGTACCAGCCAAAATCCCTCTGTCAGTAGTCAGTATGTACTTGACCCAAGAACTCGCTGGGTTCATACTTTACCTGTGCGTTCGTACTATGCAGATTCCCATCGGGAACCCTTGGATCCATTTTATGGTAGACCATATTCAGTGAGTGAGCCAGGACCATACTTCATATCCACCCCTCAGAGTGAAACATACTTTCAGGATGACCCAAGAACATATGGATTTCCCTCTGATCCATCAAAAATGTTCTATACACGGCCTTGCCATTACCCAGCAGAAGTACACATTCCTATGAGAGGATATCATACAGAGGGACGACGGCGACCACATATGTCTCAGGTCTTTTCAGATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12539
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 |
---|---|---|---|---|---|
ENSDART00000112170 | Nonsense | 428 | 1057 | 1 | 2 |
ENSDART00000112170 | Nonsense | 428 | 1057 | 1 | 2 |
ENSDART00000112170 | Nonsense | 428 | 1057 | 1 | 2 |
Genomic Location (Zv9):
Chromosome 8 (position 32098290)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 31241016 |
GRCz11 | 8 | 31250248 |
KASP Assay ID:
2260-0816.1 (used for ordering genotyping assays)
KASP Sequence:
TATCCACCCCTCAGAGTGAAACATACTTTCAGGATGACCCAAGAACATAT[G/T]GATTTCCCWCTGATCCATCAAAAATGTTCTATACAMGGYCTTGCCATTAC
Long Flanking Sequence:
TCTCATTTCCAAGTCAGACATCCACTTCAAGAACACCAACCCCTAGTGAGTGTTACAACATGGACTACAGGCAAGCATATCAGTATCCCAACAGCTTGTCAAGTAGTTACATTCATTCTGGTGAGATCCCTTTTGGAAGGACCTCTCCTAGAGATCCAAGGGAGTACAGAACATTGTCTAATCCTAACATCCCTACCAAGTTCTTTTACACAGATGATCCCTGCAGGTATCCCATTCAGCCACCTAGGACTTATTATCAGGATGACCAGTACAGTGTTATCAGCAGTACCAGCCAAAATCCCTCTGTCAGTAGTCAGTATGTACTTGACCCAAGAACTCGCTGGGTTCATACTTTACCTGTGCGTTCGTACTATGCAGATTCCCATCGGGAACCCTTGGATCCATTTTATGGTAGACCATATTCAGTGAGTGAGCCAGGACCATACTTCATATCCACCCCTCAGAGTGAAACATACTTTCAGGATGACCCAAGAACATAT[G/T]GATTTCCCTCTGATCCATCAAAAATGTTCTATACACGGCCTTGCCATTACCCAGCAGAAGTACACATTCCTATGAGAGGATATCATACAGAGGGACGACGGCGACCACATATGTCTCAGGTCTTTTCAGATGACTTGCACCGGTCAAGCATTGCTACATATTCTAGCCAGTATGCATCCTCACAGGCCACTCCTCAGAGGGCACCGTCAATAAGTTCTTGGTATCCCAATGACTTTACCGAGCCAAGTCGCTTAGGAACAGATATCCGGAATTTCTCTAAATCCTGGGACAACATTCTCACTCCTCATATGGACAGAGAAATTGGTGTTTCACGAGGCAGGAGTTACGAGAACCTTCTCCATCATGGAAGATCAGGAGTTCCTTCAAATGACAGTCAACAGCCAGTTATTGTGAATCTGTCTAGTTCGCCAAGACGTTATGCTGCATTGTCCCTCTCTGAAAATTGTCTCGAAAAGTGTGCTGGTGATAGACAAAATAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12549
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 |
---|---|---|---|---|---|
ENSDART00000112170 | Nonsense | 428 | 1057 | 1 | 2 |
ENSDART00000112170 | Nonsense | 428 | 1057 | 1 | 2 |
ENSDART00000112170 | Nonsense | 428 | 1057 | 1 | 2 |
Genomic Location (Zv9):
Chromosome 8 (position 32098290)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 31241016 |
GRCz11 | 8 | 31250248 |
KASP Assay ID:
2260-0816.1 (used for ordering genotyping assays)
KASP Sequence:
TATCCACCCCTCAGAGTGAAACATACTTTCAGGATGACCCAAGAACATAT[G/T]GATTTCCCWCTGATCCATCAAAAATGTTCTATACAMGGYCTTGCCATTAC
Long Flanking Sequence:
TCTCATTTCCAAGTCAGACATCCACTTCAAGAACACCAACCCCTAGTGAGTGTTACAACATGGACTACAGGCAAGCATATCAGTATCCCAACAGCTTGTCAAGTAGTTACATTCATTCTGGTGAGATCCCTTTTGGAAGGACCTCTCCTAGAGATCCAAGGGAGTACAGAACATTGTCTAATCCTAACATCCCTACCAAGTTCTTTTACACAGATGATCCCTGCAGGTATCCCATTCAGCCACCTAGGACTTATTATCAGGATGACCAGTACAGTGTTATCAGCAGTACCAGCCAAAATCCCTCTGTCAGTAGTCAGTATGTACTTGACCCAAGAACTCGCTGGGTTCATACTTTACCTGTGCGTTCGTACTATGCAGATTCCCATCGGGAACCCTTGGATCCATTTTATGGTAGACCATATTCAGTGAGTGAGCCAGGACCATACTTCATATCCACCCCTCAGAGTGAAACATACTTTCAGGATGACCCAAGAACATAT[G/T]GATTTCCCTCTGATCCATCAAAAATGTTCTATACACGGCCTTGCCATTACCCAGCAGAAGTACACATTCCTATGAGAGGATATCATACAGAGGGACGACGGCGACCACATATGTCTCAGGTCTTTTCAGATGACTTGCACCGGTCAAGCATTGCTACATATTCTAGCCAGTATGCATCCTCACAGGCCACTCCTCAGAGGGCACCGTCAATAAGTTCTTGGTATCCCAATGACTTTACCGAGCCAAGTCGCTTAGGAACAGATATCCGGAATTTCTCTAAATCCTGGGACAACATTCTCACTCCTCATATGGACAGAGAAATTGGTGTTTCACGAGGCAGGAGTTACGAGAACCTTCTCCATCATGGAAGATCAGGAGTTCCTTCAAATGACAGTCAACAGCCAGTTATTGTGAATCTGTCTAGTTCGCCAAGACGTTATGCTGCATTGTCCCTCTCTGAAAATTGTCTCGAAAAGTGTGCTGGTGATAGACAAAATAGT
Associated Phenotype:
Not determined