ZMP
PCMTD2 (1 of 2)
Ensembl ID:
Description:
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Source:HGNC Symbol;Acc
Human Orthologue:
PCMTD2
Human Description:
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Source:HGNC Symbol;Acc
Mouse Orthologue:
Pcmtd2
Mouse Description:
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 Gene [Source:MGI Symbol
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24257 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa24257
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 |
|---|---|---|---|---|---|
| ENSDART00000129279 | Nonsense | 159 | 395 | 3 | 5 |
Genomic Location (Zv9):
Chromosome 23 (position 7835723)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 7812600 |
| GRCz11 | 23 | 7746572 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCCAACCTTTGTTGTGGGGAACTGTCTGGAGATTCCTCCGGAGAGCCGG[C/T]AGTATGACAGGGTTTACTGCGGTGCAGGAGTTCAGAAAGAGTATGAGAAC
Long Flanking Sequence:
CACTTTCTCACTGCAATCGATCTGCTCCAAAGTTCGTTTCAATCGAGCCGAGACCACCTCAATCAATCGATCTCTGAGCGATTGATTTGGCGCGGATCCGAGAGCGATTGGTGGTTTCGCATATGCCAAACGAACCACGCTAACTGGGCCAATGAGACAGGTTCCGAAACAAAAGTGTAGGTGTGAAAGCACCCTAAAAATGCATATAATTTAATGTAAATATATGGATTTGTTATCAGGTCCGTTTGGTGTGAATCACGGTGTGGAACTACACAAAGATGTGGTTGATTATGCCTATCAGAAACTCGACTACTTCATCAAAAACAGTGACAGCTTTGACAAGTGAGTCATTTCCTGTGCAACTGCTTTAACTCTTTCATTGAAAGACTTTTTTCCCTCAATGAATAGGTTTGGTTTAACGGTTTGAGTTTTGCAGGTTTGAGTTCTGTGAGCCAACCTTTGTTGTGGGGAACTGTCTGGAGATTCCTCCGGAGAGCCGG[C/T]AGTATGACAGGGTTTACTGCGGTGCAGGAGTTCAGAAAGAGTATGAGAACTACATGAAGAACCTGCTGAAAGTTGGCGGGATATTAGTTCTCCCCCTGGAGGAGAAGGTAGATCATGTTTATTTAAAGAAATCATGCTTGTATTGCACAGTAAATTTTAAAGACCACTTGAAATTGTCTGATAAGTGTAGTTTTAGTATCTAATTGATTTTGAAAGTAAGTGTGTGACAAAACCGTCGGGCAGCTAACTCTGTAATTTTCACATGGTCGCCCACTGAAGCTAAGCAGGGATGCACCCGGTCAGTACCTGGATGACCACATGTGGAAGCTAGGTTGCTGCCGTAAGTGGTATTAATGAGGCCAGCAGGGAGTGCTCAACCTGCGGTCTGTGTGGGTCCTGATGCCCCTGGTATGATGGAGACTCTATACTGCTCAGTGAGCACCGTCTTTTAGATGAGACATTAATCCGAGGTCCTGACTCTCTGTGGTCGTTAAAAATCC
Associated Phenotype:
Not determined