ZMP
C14orf43 (1 of 2)
Ensembl ID:
Description:
chromosome 14 open reading frame 43 [Source:HGNC Symbol;Acc:19853]
Human Orthologue:
C14orf43
Human Description:
chromosome 14 open reading frame 43 [Source:HGNC Symbol;Acc:19853]
Mouse Orthologue:
C130039O16Rik
Mouse Description:
RIKEN cDNA C130039O16 gene Gene [Source:MGI Symbol;Acc:MGI:2685106]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42979 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa17472 | Nonsense | Available for shipment | Available now |
| sa32166 | Nonsense | Available for shipment | Available now |
| sa10714 | Nonsense | Available for shipment | Available now |
| sa36476 | Nonsense | Available for shipment | Available now |
| sa28897 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa23138 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa42979
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 |
|---|---|---|---|---|---|
| ENSDART00000075978 | Nonsense | 204 | 1095 | 1 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37484876)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37369773 |
| GRCz11 | 17 | 37317358 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTTCAGCAGACACAAAAGCCTGGAATGTTAAATCCACAGCAGCACGGA[C/T]AGTCCACCACTGGGAATTCTGTGCTGCAACCCTTTCAGTTAGCTTTTGGA
Long Flanking Sequence:
ATACGGGGCCCTACTATGGCGTCGGGGTCCCACCTTCAGGGCCAGGCCATAATGACAGCGGAGGTGTGGAAAGCTTCAATCCAGAAGCATCACGCATGTACCATAATTCAGTTATTTTCAGTCCAGAGAAGGGTGATCAAAGCCGTGGGCATTATCAACAGACAATGCCCTTGAAGTGGACACATCAAGACCCATCTCTGCAGCCCCAACCAAGACCAAACAGTTGGTCACAGGGTACGACCGCTTGGCAACAGAACTTTGGTCCTTACCTGACACCTCAGGCTGCTTTTGCAAAACAAATGCACGAAGGTATATCAGTTCAACAACAGCAGCAGCAATCTGAGCCATCAGCTATTAGGACAACCGAAAAGCAGGCTAACATGACTGGAGAGACCTACAGGGATGCAACTAAACCTGTCCGGGGCATGGGGGAATGGGATCAGCAGCAAGCCTTTCAGCAGACACAAAAGCCTGGAATGTTAAATCCACAGCAGCACGGA[C/T]AGTCCACCACTGGGAATTCTGTGCTGCAACCCTTTCAGTTAGCTTTTGGACAGCCCAAGCAGAACCTAGTAGCAGGTTACTATCAGGTAGTCCAGGGCAGTCGGACCTTACCAAATTTGAACTATAGTTCACAGACAAATTCTCAACATCAACTTCAGCAACTACAGCAACAGGAGCAACAAAAGTTAATGCTCCAACAGCGACAGCAACAGATAGAGCAGCAGATACGACAACAGCAGCAGCAGCAACAACAGGTACTTCAGCGTCAAAAACAGCAGCAACAAATACCACAGTCACTGGAGCAAGCACATCAATTAAAACAGACTCCACAACAGCATATGCAACAGATTCAGGCACAACTGGTGCAGCAGCAACAAAAATCGGAGCAATCTCATCAAAACCAACATGCATTGGGAGTTTACTCTGATGGCCAGCAGCCACATGCTCCTTTGCTTAATCAGCATCACCCCTCGTTATCAGGACAATCCCAGGAGACTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17472
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 |
|---|---|---|---|---|---|
| ENSDART00000075978 | Nonsense | 264 | 1095 | 1 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37485056)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37369953 |
| GRCz11 | 17 | 37317538 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACAGACAAATTCTCAACAYCAACTTCAGCAACTACAGCAACAGGAGCAA[C/T]AAAAGTTAATGCTCCAACAGCGACAGCAACAGAKAGAGCAGCAGATACGA
Long Flanking Sequence:
CACATCAAGACCCATCTCTGCAGCCCCAACCAAGACCAAACAGTTGGTCACAGGGTACGACCGCTTGGCAACAGAACTTTGGTCCTTACCTGACACCTCAGGCTGCTTTTGCAAAACAAATGCACGAAGGTATATCAGTTCAACAACAGCAGCAGCAATCTGAGCCATCAGCTATTAGGACAACCGAAAAGCAGGCTAACATGACTGGAGAGACCTACAGGGATGCAACTAAACCTGTCCGGGGCATGGGGGAATGGGATCAGCAGCAAGCCTTTCAGCAGACACAAAAGCCTGGAATGTTAAATCCACAGCAGCACGGACAGTCCACCACTGGGAATTCTGTGCTGCAACCCTTTCAGTTAGCTTTTGGACAGCCCAAGCAGAACCTAGTAGCAGGTTACTATCAGGTAGTCCAGGGCAGTCGGACCTTACCAAATTTGAACTATAGTTCACAGACAAATTCTCAACATCAACTTCAGCAACTACAGCAACAGGAGCAA[C/T]AAAAGTTAATGCTCCAACAGCGACAGCAACAGATAGAGCAGCAGATACGACAACAGCAGCAGCAGCAACAACAGGTACTTCAGCGTCAAAAACAGCAGCAACAAATACCACAGTCACTGGAGCAAGCACATCAATTAAAACAGACTCCACAACAGCATATGCAACAGATTCAGGCACAACTGGTGCAGCAGCAACAAAAATCGGAGCAATCTCATCAAAACCAACATGCATTGGGAGTTTACTCTGATGGCCAGCAGCCACATGCTCCTTTGCTTAATCAGCATCACCCCTCGTTATCAGGACAATCCCAGGAGACTACAGATCCTTCATCAACCCAGGCACAGGAATCGGTTCCCCAGCCTCCTGCAGCTGTTTCACAGCAAGCCATCGAAACCCAACAGCCTGGACCACGGAGATCCCGTCGGCTTTCAAAAGAGGGTGGAGGACCTGCCTCAGACAACCCATTTGTTATACCGTCTGATCTTCATGCTCAGGGTTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32166
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 |
|---|---|---|---|---|---|
| ENSDART00000075978 | Nonsense | 462 | 1095 | 1 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37485650)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37370547 |
| GRCz11 | 17 | 37318132 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGCTCCAACTGGTGTAATCCAGAGCACTCGGCGGAAGAGGAGAGTGTCA[C/T]AAGAGGCCAACCTAGAAACCCTGGCTCAGAAGGCTTCAGAAAGAGAATCT
Long Flanking Sequence:
AGCAGCAACAAATACCACAGTCACTGGAGCAAGCACATCAATTAAAACAGACTCCACAACAGCATATGCAACAGATTCAGGCACAACTGGTGCAGCAGCAACAAAAATCGGAGCAATCTCATCAAAACCAACATGCATTGGGAGTTTACTCTGATGGCCAGCAGCCACATGCTCCTTTGCTTAATCAGCATCACCCCTCGTTATCAGGACAATCCCAGGAGACTACAGATCCTTCATCAACCCAGGCACAGGAATCGGTTCCCCAGCCTCCTGCAGCTGTTTCACAGCAAGCCATCGAAACCCAACAGCCTGGACCACGGAGATCCCGTCGGCTTTCAAAAGAGGGTGGAGGACCTGCCTCAGACAACCCATTTGTTATACCGTCTGATCTTCATGCTCAGGGTTCTCAGAACGGGGCTTCTGAGACCTCTATGGTGCAAGACATTCGGGCCGCTCCAACTGGTGTAATCCAGAGCACTCGGCGGAAGAGGAGAGTGTCA[C/T]AAGAGGCCAACCTAGAAACCCTGGCTCAGAAGGCTTCAGAAAGAGAATCTCTTCCCTCACGTAATGTCAAGGTAACTGACGTTTCTTATTATAGAAACAAGCATTGACGTTATTTCCTGTTCGTTCATTGCTTTATAGTGAGAATGAAAAGTTGGTGTCTGTCGTAAGACAATGATTACCATTAGGCAAGTGAAGTTGACATGATGATAAAGTAGCACAGCAAGGATGCACTACTTCTTTTAAATATCTACAGGTTTTGCAGGTTTCTCAGTTAATGGGGAGTGTAAAGTTAGAAGAAGACAGACAGGCACTGACTGTCACCACTACGTCACATGATATCTTGAGCCAAACAAAGGTTTTTCCACACATCTGCAAACACTATCTCCTTACTGATTTCTCATACAAATACCAGCAAGTGCACCCCACCCTCAGTTCACAGATTCTCTTGAGGGCACATGAACACTGGTGCACATTTCCTTTTGTTGAACTCCACAATCATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10714
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 |
|---|---|---|---|---|---|
| ENSDART00000075978 | Nonsense | 571 | 1095 | 2 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37487716)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37372613 |
| GRCz11 | 17 | 37320198 |
KASP Assay ID:
2261-1369.1 (used for ordering genotyping assays)
KASP Sequence:
GGSCTYCTGACATGAGYTGCTCCAATTACCAGCCCTCTGTGATTGTTACA[C/T]GACGGCGCTCGCTGAGGAACTCCCCATCTGAGAGCACRGGCCAGGTGAGT
Long Flanking Sequence:
CCTGTCTCTCGTCTGCAGGGCAAGTTGTCTCATCTTGTAGCAGAAATGAGGTCACAGTTAATTCATTAAGTTGTTTTTGAAAATAGCCCTGAACTAACCTCATTTCCTGTGATAATATATGTTATCAGCTTTTATTTTAATTCTGATTTCTCATGTATATCCTTTGTACATACTGAGGAGGGATGCCCTCTGCTGAGATTCAGGTCTTTTAACCATTAATTTAACTCATCATGTTGTGTTGCCAGCAAGAGCCACACAGGCCTTGGAGTCCGCCTGTTGTCCCGACAGGTCCTGGTCGAGGGGCAGCTGAGGTGGATCAGGTGAGTGCCAAGCGGCCCAGAGACGACAGCCTCATGCCATTGGTCATTCCAGTCTCTGTACCAGTGAGGCAGACTGACTCCTCATCCCCGGATCATGAGCAGGCTTCCCTCTCCGTTAGCTGGCCTTTGCGGCCTTCTGACATGAGCTGCTCCAATTACCAGCCCTCTGTGATTGTTACA[C/T]GACGGCGCTCGCTGAGGAACTCCCCATCTGAGAGCACGGGCCAGGTGAGTTTACTGACTGATCTCACATCAAAACATCTACCTTTCTATTCTCATGCTATCTTTCTCTTTTTGCCAACTTATCTTCTCCATCCCCCAGCGTTAAGCCATGGATTAAAATTCCCCAATAATCCGCAAATTTCTAACGACCCCCCCATCCCCCCTTCACCCTCTGTTCGTTCACTGTACCCTAATCCCACCCTCCCCCAAACCATTTTTCAGATATTACAAGACTCAACAAGATCATTTAGATTGCATGTGGTCTGTGACTTAAAGAACGGTTTACGCAGAGATGCACAGTATATCGTTTTCCTTGTTATTTTTGTTATCGGTAATGTTAAATTAATGATAAATGTTGGTCATTGTGGTTTTGATGGGTCTCGTGGAGTAGATGCACACGTTTTTACTAAATGAAAGAAAAGAGAATTTTGCAAAAAGAAAAATCTTTGCTGTTTTGTTGCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36476
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000075978 | Nonsense | 599 | 1095 | 3 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37490514)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37375411 |
| GRCz11 | 17 | 37322996 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCTGCAGAATGGCGGAGCAGAGAGCGGGAGTGAAGCTGACAGCAAAT[C/A]AGCCAAAGCCAAACGACGTCCTCGTCCAGAACCGCTCTTTATCCCCCCAC
Long Flanking Sequence:
TCGACCACAGAGAAATCAAAAAAAAAGAAATTGTCATTCTCGCCAGCATCTGGATTTATTTTCATTGGCTAGACACCGTCCTCACAGCTCTGTGAATGTCAGTGCCATCACTTATTGATCCATGATCAGGAGTTTTAGCTTGTGTGGACGCTACTGCGCAAATTGACTAGCTTCACTACCGAAAAGCTATTTGATTTATAAAGTAGCGACGCGTCTGCCACACTACTGACAAATGTAGTTAAGCTAGCTGCTGCAAGGCACTGATAAACACTATCACTGTTTTTTGCTTAGACCACATTTGACATTGTCAGAATCGATGCAGAATCAAATTTGCAAATGATTTTTCACCACAGGTCTAGCCTTCAAATATAAAGAGTTATCACTTATTGGTATCAGCCAAAATGTCCATATCTTTAGCTTGCGATCTATGCAGTTTTCTAACATCTAATTTCTTCTGCAGAATGGCGGAGCAGAGAGCGGGAGTGAAGCTGACAGCAAAT[C/A]AGCCAAAGCCAAACGACGTCCTCGTCCAGAACCGCTCTTTATCCCCCCACCCAAACTTGGCACTTTCATCGCCCCACCGGCCTACTCCAGCATCACACCCTTCCAGAGTCACCTACGATCTCCTGTCCGATTGGTGGACAACCCCCTCAACATGCCGCCTTACACTCCTCCGCCCATCCTCAGCCCGGTTCGAGAGGGTTCGGGTCTTTACTTCTCCACGTTCTTGTCGGCTGCGGCTGCTGCAGCTGCTGCTGCTAATAATCAGGTGCTGCCCCCGCCTGCCACTCCCAAATCAGCCACCCGCAGCCTTCTGCGCTCAAGTGAGTTCCCTTGACTTTATCTCTAATAAAGCTCATTAAATATCACTTTGATTAGAGTAATCAGCATTTACAACTAAATGAACTGAAATTCGCGATGAAATGCAACCTAAATAAACAGGCAGTCTAGATGCAGATCATATAGCCAGCTATATAGTCTTAACTGTAATACAAGCTTACAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa28897
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000075978 | Essential Splice Site | 811 | 1095 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37510462)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37395359 |
| GRCz11 | 17 | 37342944 |
KASP Assay ID:
2261-1370.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCTCAGCCATACTTAATTCTTTTTCCTTTCCTTTTTTTTTTCTTCACA[G/A]GGAACCCTCACACATCTGCTATTAAAAAAAAACATCTTTTCCAAATCGCA
Long Flanking Sequence:
ATTTGACTTCATCCAGTACAATTACCTAAATACATTTCACAGTGTCCACATATTCTTTAACGCATTGAGTTTTGGTCTGTCCATGTCATTTCCCTTACTGTTCACATCAAAGTGGCAAAAGAGTTATAAATGGAATATAAAAATCTCACATCGGCGCTCGCTGACCCAGAAAAAGATGGGTGTCCTTGATTTATGGCACCCTGAGAAACTGCATGGTGGAACGAGGCGGAGAGAACAAGAGCGATTATCCAGCAACTTGCACAGTTGGGTTAAACGCCTTCAGCAAAAGGCCTTTTCACACATGTTACGAAGGGTACATAACCACCATGCTCTCACAGAATTGCATCTCTCCTGGCCTCATTATTCTCTTTATATCAACTTAACATACCCTGACCTGCGCATCTTCCGCCAAGACACATCACACCAGCATCACACTATAGCCAGTTTGGTTTCCTCAGCCATACTTAATTCTTTTTCCTTTCCTTTTTTTTTTCTTCACA[G/A]GGAACCCTCACACATCTGCTATTAAAAAAAAACATCTTTTCCAAATCGCACCCTCTGGCTGACTACCACTACTCTGGTAAGTCCCTCTCAACGTCTAGCATACTTTCCCTTTCCTTCCCCCTGATTTTTTTTTTTCCCTAAGGTGATGTGAGTTAATCTGTCCGGCATGCGGCCCCCGGTACCCCGTCACCCCCTGCACTGGCATTCCAGACCACGTTCCCTGTTTCAGCTATAAACAAAAGCAGCTGAAGAGTGGAAGGGAGGGTTTCGGGTGACCGAGTGGGTTGCTGGGTAAAGTACGCGAGTGGGTTAGAGGAAAGGAGGGGGAGTATGTGTGCGTGTGTGTCTGTGGCATGTTGTTAAATCCTAGGAGAAGACAGCGGCATCATTGTTTGTCTGGACATGTGTGTGCTGGCTGTTTGCCCTCTCTCTGTCCTTTGTGTGGGGATGTATTTGTGTTAGTGAGGGGGGTGGGATGGGGGACTCAACAAGCAGATTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23138
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 |
|---|---|---|---|---|---|
| ENSDART00000075978 | Nonsense | 1007 | 1095 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 17 (position 37520615)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 37405512 |
| GRCz11 | 17 | 37353097 |
KASP Assay ID:
2261-1371.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCCGACACTGCTGCCAGGAAAACTGGGCCCAGCAACACAGGAAAGGGA[C/T]AAACCAACCAAGAGGGCGAATTCCCCTGCAAGAAGTGTGGCAGGTCAGTT
Long Flanking Sequence:
AATGAATTGACAGGGACATGCAAAACACTACATTGACCTTAAAAAGGTAATTTGTTTTGTACCTGGCTTTAGCAAAAACTGCTAATTTCCACCTGCAGTCCCTGAATGATGACAGAATTTTTTATTTTTGTGTGAACTATCTCTTTAAATATTCAATTGTAGTTTTTGTAATGCACTAAATACAAATAAAATGGTCCAAAATATAACAATGAAATTGTAATACATTTATTAGGGACCATCACACTGAAGTAACTTTTGAAGGGTTTTAAATTAATTCACCACACAAGTGTTTGATCTCTGTATGTATTTAGCTTATGTTTGCTTGCGTAACATTTGTTTCCTGTCAGGCTGCTGCCGTCTTGGTCTTGAGTCAGGAGAACAGCACCAGACATCCGTCCACATTGGGGGTCAGTCATCCTCCTCATCCACCTCAACCACCATCCAAATCTCGCTCCGACACTGCTGCCAGGAAAACTGGGCCCAGCAACACAGGAAAGGGA[C/T]AAACCAACCAAGAGGGCGAATTCCCCTGCAAGAAGTGTGGCAGGTCAGTTTACTGGGATATATCTGTGCAATGTTATATCTTGTATACGTTTATTTAAACAAGCTGCTTTTGGCAGACGGCATCCAATTTTGGTGTCTGCATCAAATTTACTGAAGTGATTTTCATAGCAGGGTGTCCGCGGGGTCCTAAAGTCTTAAAATGTCTTAAATTGTACAAAAAATAAATTTAAAGCCTTAAAAAGTCAGTCGAGTAGGTCTTAAATACTTTTAAACAGTATTTAAACTTTTACATTTATAGCCAATCAGTACAACCAACAGATCTAAAAAGGTCTTAAAGTCTTAAATTTGACATGATGAAACGTGCAGAAACCCGGTATAGGCATGACAAGCAAGTAAAGAGCCTCCTTCAATGTTTTTTTTTTAATTATATAATTTTAAAATATGGGTGAATTTATTGTACTTGTTCATTCAGTGTTATTCATATATTTTTATGAAAAAAT
Associated Phenotype:
Not determined