Busch Lab

ZMP

LOC799850

Ensembl ID:
ENSDARG00000076873
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.
Availability:
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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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
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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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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