ZMP
zgc:92335
Ensembl ID:
ZFIN ID:
Description:
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:RefSeq peptide
Human Orthologue:
MMADHC
Human Description:
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc
Mouse Orthologue:
Mmadhc
Mouse Description:
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria Gene [Source:MGI Symbol
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43791 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43791
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:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060979 | Nonsense | 21 | 291 | 3 | 8 |
| ENSDART00000139826 | Splice Site | None | 176 | None | 6 |
| ENSDART00000140054 | Splice Site | None | 271 | None | 8 |
The following transcripts of ENSDARG00000041602 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 22 (position 12736151)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 12572081 |
| GRCz11 | 22 | 12596858 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGTGCAGGAGGGTCAGGCAGGTGAGCCACTCGTCTGTCGTTCACTCTT[T/A]GGCTCAGAAAATTCTGGCAGTTCGAGCGTTTTCAGCCGCAGGGTCGTCTG
Long Flanking Sequence:
CTCTGCACAACAAAAAAGCATACAACTTTCTGTTCAGTTTTAACACTTCTTCAGACAGGAAGTTTCTGCAGAGCTGAATTTAATTTTGGACCTGTATTTATCTACTTCTGCAAAAATGCTAATTAGTATGAACAGCACTCACACGCTACAGTAAAAGTTCAGTTAATATATGACCCTTACATGACCAATACAAATAATTGTTTAATTAAAAAAAAAGAGACAAAAATAATAAAAAAAAATTATTCCTATTATTCAACATTATGTTTGTCTTTTAATATCAATCAGCTTAAATTAAATGAATGTGTGGTGTGTTCGTGTGTTGCAGGTTGCAGTTGTAGTGGAGTCGTGTGCAGCGTCATGGCGAGTGTGAGTGTGGATCCGCTGCTTCAACTCTTTGTGTGTGTGTGTTTGTGTCAGTGTTGTAATTGATTGTGTGTGTGATATGCAGGTGTTGTGCAGGAGGGTCAGGCAGGTGAGCCACTCGTCTGTCGTTCACTCTT[T/A]GGCTCAGAAAATTCTGGCAGTTCGAGCGTTTTCAGCCGCAGGGTCGTCTGGATCAGATGAGCCCTATATTGCTGTACCGTCTCAAAATACAGGTGCGTCCCAAATCCCATACTTATTCTACTGCTTTTTTGTCGTATAAATTAGGGTTGGGTGATATTGGAAAAAAAAGCGCATATTGCGTTATTTTTATTTTTCTGCGATTTGCAAATAACTCGATTTGGAAATAATGAATACTTTTATATTCTTTGGCATGATTTTATAGAGTGCTTTTGCAGAAAATATAATTAACGAATTACCAGCATAAAGTAGATAAATAAAATCAAACGTACGATGAAGTTGTAGAGTCTTGATTGTAGGGCTGAACAATATATCATTTGAGCATTGATATGACAATGTGTATTCGCTATAGTCACATTGCAGGATTATATCAGTATTAATAGTATCAGAGATGTTATGCATTTTTTTATATTATTGTGTAAAATGATTTCTATGATGATGAG
Associated Phenotype:
Not determined