ZMP
LOC569740
Ensembl ID:
Human Orthologue:
C9orf174
Human Description:
chromosome 9 open reading frame 174 [Source:HGNC Symbol;Acc:29303]
Mouse Orthologue:
E230008N13Rik
Mouse Description:
RIKEN cDNA E230008N13 gene Gene [Source:MGI Symbol;Acc:MGI:2685871]
Alleles
There are 9 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14782 | Nonsense | Available for shipment | Available now |
sa31476 | Missense, Nonsense | Available for shipment | Available now |
sa33713 | Nonsense | Available for shipment | Available now |
sa33712 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14782
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 |
---|---|---|---|---|---|
ENSDART00000042420 | None | None | 1336 | None | 34 |
ENSDART00000111120 | None | None | 313 | None | 9 |
ENSDART00000130660 | Nonsense | 471 | 1502 | 15 | 39 |
Genomic Location (Zv9):
Chromosome 5 (position 52830916)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 50498112 |
GRCz11 | 5 | 51144705 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGTAMAATTTCACTCTTTSACATGTTYACTGAACATAGATANNNNNTGT[C/T]AAWTGTCTCACCCAACAGAGGAAAGAGGCCCAGCTGGATATGATGTTGGA
Long Flanking Sequence:
TGCCCCATACTGAATGAAACTCCAAACCATGATTTTTCCTTCACCAAACTTGACTGATTTCTATGAGAATCTTAGGTCCATGCTGATTCCAATAGGTATTCTCTAGTATTTTTGATGATTGAGATGCAGCTTAACAGATGGATCATTGGAAAAATCTACTTTCTGACACTTTTCCAAATAATCAACTAGAAGTCAACCTATTATTTGTTGCTCTTACAACTGGGATTGAAGACAAGACTTTTGTCAGGCAGTGTACATTCAAAATTCACTCACACTGTTTAGACCATAGTTTTGTAATGGTAGTAAAGTAAGAAATGTAGTAAAATCAAATTTTGTACACACTCAGACAAAACCTGATTTCACACACCAGAACTTTGTGACACTGGTCATCCAGAAACACATTTAGACACCACTTTATAATCAGTGCTTAAATAATGAGTGCTCAATCTTTTGTAAAATTTCACTCTTTGACATGTTCACTGAACATAGATACTGTATGT[C/T]AAATGTCTCACCCAACAGAGGAAAGAGGCCCAGCTGGATATGATGTTGGACAAACTCAGACAGGAAAGTTCAGAAGAAGCTCTGAAGGCCTCATTAGAGAAAATACTAACCTATTTGGAGGAAGTTAAGAATGGGTAACACACATTTAGATTTCTATAAATCATTTTTTGTTGTTATTGCACTGTATGATAAGCTACTGGAACTTAATAATGGAACAACGTTTCTGGCAAAAAAGAAAGAGAACCTAGATATTTTGTGGAAATATTTTCCTGCCTTGTTATTTAAGGTATGTGCAAACCTATGAAGAGGAAGTGGAAATTGTGGAGTATTATCCATCTACAGTACTGCAGGAACTACAAGCATACAGTCTTTCTGTTAGCCAGTTCTTCAGTGCTGAAGAGGTTTATGGTCAGGTACATATTTAACAAGAACAATGCTGTTATCTCTGTTTGTACTTGAACAAACATTGTTAAAATAACCTCTTTTTGTCATAGGACCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31476
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:
Missense, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000042420 | Nonsense | 403 | 1336 | 11 | 34 |
ENSDART00000111120 | None | None | 313 | None | 9 |
ENSDART00000130660 | Missense | 492 | 1502 | 15 | 39 |
Genomic Location (Zv9):
Chromosome 5 (position 52830852)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 50498048 |
GRCz11 | 5 | 51144641 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACAGAGGAAAGAGGCCCAGCTGGATATGATGTTGGACAAACTCAGACAG[G/T]AAAGTTCAGAAGAAGCTCTGAAGGCCTCATTAGAGAAAATACTAACCTAT
Long Flanking Sequence:
GAGAATCTTAGGTCCATGCTGATTCCAATAGGTATTCTCTAGTATTTTTGATGATTGAGATGCAGCTTAACAGATGGATCATTGGAAAAATCTACTTTCTGACACTTTTCCAAATAATCAACTAGAAGTCAACCTATTATTTGTTGCTCTTACAACTGGGATTGAAGACAAGACTTTTGTCAGGCAGTGTACATTCAAAATTCACTCACACTGTTTAGACCATAGTTTTGTAATGGTAGTAAAGTAAGAAATGTAGTAAAATCAAATTTTGTACACACTCAGACAAAACCTGATTTCACACACCAGAACTTTGTGACACTGGTCATCCAGAAACACATTTAGACACCACTTTATAATCAGTGCTTAAATAATGAGTGCTCAATCTTTTGTAAAATTTCACTCTTTGACATGTTCACTGAACATAGATACTGTATGTCAAATGTCTCACCCAACAGAGGAAAGAGGCCCAGCTGGATATGATGTTGGACAAACTCAGACAG[G/T]AAAGTTCAGAAGAAGCTCTGAAGGCCTCATTAGAGAAAATACTAACCTATTTGGAGGAAGTTAAGAATGGGTAACACACATTTAGATTTCTATAAATCATTTTTTGTTGTTATTGCACTGTATGATAAGCTACTGGAACTTAATAATGGAACAACGTTTCTGGCAAAAAAGAAAGAGAACCTAGATATTTTGTGGAAATATTTTCCTGCCTTGTTATTTAAGGTATGTGCAAACCTATGAAGAGGAAGTGGAAATTGTGGAGTATTATCCATCTACAGTACTGCAGGAACTACAAGCATACAGTCTTTCTGTTAGCCAGTTCTTCAGTGCTGAAGAGGTTTATGGTCAGGTACATATTTAACAAGAACAATGCTGTTATCTCTGTTTGTACTTGAACAAACATTGTTAAAATAACCTCTTTTTGTCATAGGACCATAAGGATTTTTGCCAAATTTATCCTTCTCTTAAACTTGGTGAGTTGAAAATGCATCTTTAGGAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33713
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 |
---|---|---|---|---|---|
ENSDART00000042420 | Nonsense | 726 | 1336 | 18 | 34 |
ENSDART00000111120 | None | None | 313 | None | 9 |
ENSDART00000130660 | Nonsense | 877 | 1502 | 23 | 39 |
Genomic Location (Zv9):
Chromosome 5 (position 52827469)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 50494665 |
GRCz11 | 5 | 51141258 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTGAGGGGGGGAATTTTACACCCCAGGAAATTGAGGTCTTTCAGTCA[C/T]AACTGGAAAAGATGGACAAGCGCATTGATACCGCAGAGGGGGCCGTGATA
Long Flanking Sequence:
AACTCCCAGACAGACTTACAAGAGTTACAGGTCCAGCTGAATAAACTGACTGAAGACTTTCAAATGCAAATCTACAAAAGAGAGAAAGATTTCATCGTTGGCACTAGTTCTGAAAAGTAAATAAATGCAAATACATTTTGTATAACGGTAATGATGTGTACAGTTTATGTAACAATCTGCTTTTTCTGGCCTTTTTTATTTACAGGCTAAATAGACTTTGGAACTCACTTCAATCCAGCCTGGACAAACTCATCAGTGTTATCCAGATTTCACAAAGAGACTTCAGACAAAAGATTGAGTTCAGGATGGAGGGTCTGAGGGAGTCAAATGTTCAGATAATGAGATCTTTTAAGTATGTGATCAATGTTCTCCGTATAAGTTTTTAGCATATTATGCAATGGATATTATTAAAGCCAAATGAAATAATCATTATCTATTCCACAAGATTGTTTTCTGAGGGGGGGAATTTTACACCCCAGGAAATTGAGGTCTTTCAGTCA[C/T]AACTGGAAAAGATGGACAAGCGCATTGATACCGCAGAGGGGGCCGTGATACAGGACATGGAGGATAGAGAATCAAAGTGTCTGGACCAGGTTGAGATTTTCAGCTCGTAAGTGAATCACTGTGATCATATACTACAGTCAGTGACTATCTGGTTTTTTTTGTTTGTTTTTTTGCTTAGGCCAAGGATATTTTCAGGAGGTTTGGGGAAAAATTCAGTTTTCATGCTAATGACCTGAAGTTTCTTGAAAAAATGCAACAAATTTTTACCAACACACGAGTCCAGATTAAGAGCGAGGTATGTACATAGTATCATTTAATGATATTTAATTTCTGTCATTCTGTGTTCATAATCTGCTGAATTTGTGCTTGTCTGTTCAGGCTTTGAAGAGTAACATGCAGAAAAAGATGATTGATAGCATGCTGCGTGATTTAAAACAAATGACTGCTGAGTATTACCAACCATGTCCTGATAAGAAGGTAAATGTCTTGAAGTGCCAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33712
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000042420 | Essential Splice Site | 1210 | 1336 | 31 | 34 |
ENSDART00000111120 | None | None | 313 | None | 9 |
ENSDART00000130660 | Essential Splice Site | 1376 | 1502 | 36 | 39 |
ENSDART00000042420 | Essential Splice Site | 1210 | 1336 | 31 | 34 |
ENSDART00000111120 | None | None | 313 | None | 9 |
ENSDART00000130660 | Essential Splice Site | 1376 | 1502 | 36 | 39 |
Genomic Location (Zv9):
Chromosome 5 (position 52819422)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 50486618 |
GRCz11 | 5 | 51133211 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTATTTCAGTTCGACAATCTCATTACCATCCATGAGGTTCAAGTGGGACG[T/A]AAGTCTATGTGGTTACACTATGGGAATGTAAAATGATGCCTCACCACCAG
Long Flanking Sequence:
ACAATGGTGATAACAGAGAAAAGTTCCCCAAAAGTTTCTCACATGTTCGTCACTGGGGAAGAAACCAATAACTGTCATGTCACAATATCAACCGTCTGCTTTATATATTTGTTAAATATTAAAGAAGTTTCTGCTTTTTGTGGTCTGCTGTAATAGAGAGAGCATAGTGGTCAGTTGCGTGTGCGTCTCAGTCACCCGGCTTGTGAGAGGGAACTCAAAGCGTTGGTGGAGGCTGAAGAGCAGAGACAGAGACATCACAGAGAGGCCATCCAGCATACCAGACAGGAACTTCAGGTTACTCAGACCTTCAGACTTGAGCTCACTAAGTCATTCTTCTGCCTTTGTTGCTCTTTTTGAGTGACTAAACTTGATTTTGTTTTTGGACAGGCCTGTGTCATCAAAAACGCCGAGGAATCTGTCACTGCTTTTGCCAGGTTGGCAGAGGCCCTGCTATTTCAGTTCGACAATCTCATTACCATCCATGAGGTTCAAGTGGGACG[T/A]AAGTCTATGTGGTTACACTATGGGAATGTAAAATGATGCCTCACCACCAGTTTGACATAAGAAGTGCTTTTGTTAATATATATATATATATATATATATATATATATATATATATATATATATATACACAGCTCAAAAAATAACTACAAGTCAATCACACTTCTCTGAAATTAAACATTAAACTGCCCCATTTAGGAGGAAAAATGGAACAGATTCAGGTTGTGCTGCCAAGTCATAGAGAATTAGCAAAACACCTCTAATAAAGGAGTGGTTCTGCAGGTGGTGACCACTGACCACTTTTCAGTTCCTTTGCTTTCTGGCAGATGTTTTGGTCACTTTTGAATGCTGGCGGTGCTTTCACTCTAGTGGTAGCATGAGATAGAGTCCACAACCCACACAAGTGGCTCATATAGTGCAGCTCATCAAGGATGGCAGATCAATGAGAGCTGTGGCAACAAAGTTTGCTGTGTCAGCGTAGTCACTACCTGGAGACAGGCCAG
Associated Phenotype:
Not determined