ZMP
LOC568356
Ensembl ID:
Human Orthologue:
AFAP1
Human Description:
actin filament associated protein 1 [Source:HGNC Symbol;Acc:24017]
Mouse Orthologue:
Afap1
Mouse Description:
actin filament associated protein 1 Gene [Source:MGI Symbol;Acc:MGI:1917542]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa35294 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa42030 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa35294
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 |
---|---|---|---|---|---|
ENSDART00000077580 | Essential Splice Site | 268 | 723 | 6 | 16 |
ENSDART00000130594 | Essential Splice Site | 273 | 807 | 6 | 17 |
Genomic Location (Zv9):
Chromosome 12 (position 24244187)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 22773705 |
GRCz11 | 12 | 22894924 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGACGGAGCTGGCTCTGGATCCACTGTTCACAAGGCAGAGCTGGAAAAG[G/A]TGCAATTTCATAATTATATTTATGGATAATACTTTCTGTGTGTGTGTGTG
Long Flanking Sequence:
CTTTAGTTTGATTTGATGAAACCTGCAGAGTCACTTTTTTCAACTGCAGAGTTGAATTTTCTACATCAAAAGTGGACAGAGCAGAGATCAAGGTCCTATAATGCAATACATAATCATAAATATATGGTACACACAAAACACGGAAACTGTTAATTAACAGATATTTTTTACAATGTACATCCCAGATAGACTGTACATGCCAGATAAAGACGTATGGTAACCTGGCTATACATAATTAAGATATTTTTAAATTTGTGTGATTGTTCATAATTTTATACAATAATCACATGAGGATTTCTGCTCTTTATTTTAAATAGAACAAGCCATTTCATTAGATTTCAATATGGAATATCGAGTTTCTGCCTTTTATTTTGCACTTTAACTTTCTGTTCTGTGGTTTCTTAAAGGTGATGAAAGAAGTCTGCTCGAATGGAAATGGAGTGGTGGATTGCGACGGAGCTGGCTCTGGATCCACTGTTCACAAGGCAGAGCTGGAAAAG[G/A]TGCAATTTCATAATTATATTTATGGATAATACTTTCTGTGTGTGTGTGTGTATTTACCATGCCTCCAGACGATACGCAGGTCTACCTACATGCAGGTTTGTGTGGCGGTTTGCATGCTTGCCAGCTTCACCACTCCTCAATACCGGCGCCTCCTCTCTGTACTCCTGTACAGTGGCTCTGCCAGGGCATGGAGGGCTATAAAAGCTGCATATGCATATACCAAATTCCATCGTGCCACGGATGTGTGCCAGGTTAAATACTGTAGGTGTGACGGGAAATGTGATCTTATCTTTTTAAGAACACATTCTTTAGTACTGGTAAGCTGTGACATTATTTTTGCAGCGTGTGCGTGTTGCACTTGTTTATGCGTGTGTTTTAAGATATATCTCATGGGGTTTAATGTCAAACCTCTTAAACTGGCACAGCATGCATGAGCCTAGTCTAATTATTCACACTTAATGCAAAACAGATGCTCTTTGAGTTTTGTTTGGGTAGACTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42030
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077580 | Nonsense | 272 | 723 | 7 | 16 |
ENSDART00000130594 | Nonsense | 277 | 807 | 7 | 17 |
Genomic Location (Zv9):
Chromosome 12 (position 24244902)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 22774420 |
GRCz11 | 12 | 22895639 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGGCTATGGATATCTGAAACATTATTCTTGTTTTGCAGAAGCTGTCCTG[C/A]GATCGGCCCAGTTCAGATGGAGAGCCCTGCCATGAAAACGGCATCTCAGA
Long Flanking Sequence:
ATATACCAAATTCCATCGTGCCACGGATGTGTGCCAGGTTAAATACTGTAGGTGTGACGGGAAATGTGATCTTATCTTTTTAAGAACACATTCTTTAGTACTGGTAAGCTGTGACATTATTTTTGCAGCGTGTGCGTGTTGCACTTGTTTATGCGTGTGTTTTAAGATATATCTCATGGGGTTTAATGTCAAACCTCTTAAACTGGCACAGCATGCATGAGCCTAGTCTAATTATTCACACTTAATGCAAAACAGATGCTCTTTGAGTTTTGTTTGGGTAGACTGTCGAGGTCTAAGCCTGTGGGGTTTATATCCCATAGTCTTTGTGTGTATGTATTTAATGTGTCTGTCTATAAACAATTTGACAATAAATTTAGGAACGAATGCCGAACACTATTGTTTTTGGAGTTCAGTGTGTGCACTTTCCTCATGAAATGTGTTTTCTTTAAAACGGCTATGGATATCTGAAACATTATTCTTGTTTTGCAGAAGCTGTCCTG[C/A]GATCGGCCCAGTTCAGATGGAGAGCCCTGCCATGAAAACGGCATCTCAGATGGCAAAGATCCAGGTGAGTCCTCATGTTGACTTTTTTTGTTTGGAACGCTGGAGGTCACTGAGTAAAAGGTGATAAAAGGAAAATGCATGTGTGTGTGTGTATGCTTTTTCAATGTAGTAAATCAAAATTTAGCACATATATGGTTGAAGTCAGAAATATTAGCCCCCTGTTTATTTTTTTCCCAATTTCTGTTTAATGGAGAGATTTTTTCAACACATTTCTAAACACAATAGTTTTAATAACTCATTTCTAATAACAGTAAATAATATTTGACTAGATATTTTTCAAGACACTTCTATACAGCTTAAAATGACATGTAAAGGTTAATCTAGGTTAATTATGCAGGTTAGGGTAATTAGGCAAGTTATTGTATAATGATTGTTTGTTTTAGGTATCGAAAAAAAAAATTTCTTAAAGGGGCTAATGATTTTGACCTTAAAATTGTTAT
Associated Phenotype:
Not determined