ZMP
LOC563801
Ensembl ID:
Human Orthologue:
MTPAP
Human Description:
mitochondrial poly(A) polymerase [Source:HGNC Symbol;Acc:25532]
Mouse Orthologue:
Mtpap
Mouse Description:
mitochondrial poly(A) polymerase Gene [Source:MGI Symbol;Acc:MGI:1914690]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38890 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38890
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111334 | Essential Splice Site | 346 | 600 | 5 | 9 |
Genomic Location (Zv9):
Chromosome 12 (position 25090670)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 23547010 |
| GRCz11 | 12 | 23668229 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCTCATCAGCCTTCTGGCTTTCAGTGCGATCTTACAGCCAACAACAAG[T/A]AACGTTCTCTTAATAATGTTATCACATAATCCACATATACACAAACTCCA
Long Flanking Sequence:
CTCAGTCATGCGTTAACGTTGAAGCCTCCAGTGAATCGGGCGTTAGTATTTAATTAATGGTTTGTATTTAATTAATGGTCAGAGTTGAATTGTTGTTTGTATTGTAGTTCATATGAAGTTTTTTTTTTTTTCATGCATTAGTCTTAAAATTATATAACTGAATAATGAATTCTCCTTTAAAACATTCCTTTAAGCATTACATTTGTAATGACAATAGATTGCGTTTGATTTAAATTTTTTTAACCTTTTTTTCCCCAAGTCCATTAATTGTTCAGCCATGTTTAAAACAGGGCTCGGGACTGTCTCTGGAGTACCAGGTGAAGACAGGGCCATCAGAGCGGGCTGTGACACAGAGTATCCTCTCAGTCGTTGGAAAATGTGTGGACCAGTTTGGCCCTGGATGTGTGGGAGTCCAGAACATTCTCCAAGCACGATGTCCTATTGTCCGCTTTGCTCATCAGCCTTCTGGCTTTCAGTGCGATCTTACAGCCAACAACAAG[T/A]AACGTTCTCTTAATAATGTTATCACATAATCCACATATACACAAACTCCATCTTGAAATAATACACTGTCAGAAGCTAAGAAGGCAAGCCATAGTTTATCTCTGTAAAAAGTGTTGTGTGGGCTGTCAGCTTGTTTTCTCAGTCCCATTTACACTTCCCTAAAACAAAGGTCACTCTGACGCTTCCTTTTAGAATGTGACACTCCAGTACTGCAGTGAAACTTGCTCAGCTTTTTTTGTTATTCTGGGTCCCCTGTTGAAGGGGAGGGATATTCCCAGATGTATGCAGTATGCAAGCATATGTGCATAATGAGAAACCCACAGCGTTGTAGTCTTTGAAGCATTTATTTTAAAGGATGTGTGAACAAAGTAGAATGACTAATGAATGCAGCCTGCTAAACATGAAATGCAATTACTTATAGGAAGTTGATAAAAAGGGTTTTTATATGCAAGTTAATCTTTGTTTTTACACATTTTTACACTTGTTAAAAAAACACCATA
Associated Phenotype:
Not determined