ZMP

C9orf172 (1 of 2)

Ensembl ID:

ENSDARG00000076268

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
sa15509	Essential Splice Site	Available for shipment	Available now
sa12476	Nonsense	Available for shipment	Available now

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.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

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:

sa12476

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:

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