ZMP
si:zfos-47c12.1
Ensembl ID:
ZFIN ID:
Description:
Methylmalonic aciduria and homocystinuria type C protein homolog [Source:UniProtKB/Swiss-Prot;Acc:Q5
Human Orthologue:
MMACHC
Human Description:
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc
Mouse Orthologue:
Mmachc
Mouse Description:
methylmalonic aciduria cblC type, with homocystinuria Gene [Source:MGI Symbol;Acc:MGI:1914346]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39265 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39265
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064427 | Nonsense | 161 | 250 | 4 | 4 |
| ENSDART00000145981 | Nonsense | 185 | 274 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 20 (position 1415553)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 1371418 |
| GRCz11 | 20 | 1392244 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTACACAGAAGATGTTTGGAGTTTGTGTCCACCCTCAGCTGGGCGGCTG[G/A]TTTGCGATCCGTGCGCTGCTGGTGTTCAGAGATGTGCAGGCGGGAGCAGG
Long Flanking Sequence:
ATCAGTTCATCCAGACATTTTAATCTGATTCGCAAACTTGTTTGACGAACCAAATTAGCCAGAGATCAGTTATCAAGATCAAAAGATCCAGGAAATAATCTTAGATCATTTAAGCCAGGTATGAAGAACAGACCCCAGATGGAGACTGATGTTTTGTGTTTACCTTATCATTAAAGTTGTTGCACGTTCGCCGGTTCCCACCTCAAAATGTGCGCGTTTGAGCTACCTGTACATTAAGGAAGCTTTCAGAAAAAACTAAACGAACAAACACCTACTGCCAGCTAGCATTTCGGAAGTGTTATTCCTCTGCAAATACAAACAGCGCGCCGAAGTATTATGCTAACAGGTGATCATACTGATATATAAAGCAGGCTTACGGCGTCTCCTCTTTTTGAATATATTATCTATTGTCAGCGTGTTGGATGTCTTCTGACCTGAAGTCTTCCTCCTTTTACACAGAAGATGTTTGGAGTTTGTGTCCACCCTCAGCTGGGCGGCTG[G/A]TTTGCGATCCGTGCGCTGCTGGTGTTCAGAGATGTGCAGGCGGGAGCAGGTTTTCAGCAGAGGGATCCCGCAGACTGTGTGTGCACGCAGGAGGAGCGCATACGGCTGCTGGAGAGCTTTAACCTCCGCTGGCGGGACTGGAGCTACAGGGACATCGTGCCCGCAGAGGATCGCTACTCGGACCAGCAGAAGCAGTATTTCATCACTCCACCAGGACAGCGGAGGGCGCTGCTCAGACAGTGGGGATACCTGACCGACACGCAGAGCTGATCAAACTAACTATTATTGTGGTCTCTGCTGAACGACTTGTATGTTGACTCTGGGAACAATGTAATTAATTGCACAATAGAAAACAAATGTATATATATTTTTTAATTTAATTTAATAAAATTGCGGGAAAGTGTTTTAACATAGTGGGTTGCCAAGTCCAGAGTTTTCCTGCAGGATGTCTGAAGTCTTAATTTTCATTCCTTTATTTTCCTATCAGCTTAGTCTGTATT
Associated Phenotype:
Not determined