ZMP
mmadhc
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 are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31710 | Nonsense | Available for shipment | Available now |
| sa21479 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31710
Status:
Available for shipment
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:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000012478 | Nonsense | 104 | 297 | 4 | 8 |
| ENSDART00000125370 | Nonsense | 104 | 188 | 4 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 24084822)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 23240608 |
| GRCz11 | 9 | 23051477 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGAGAACCACTTCGGTCCATAGTGTGATGCCAGATGTGCTCACTGCT[C/T]AGTCCAACAACCAGAGACATGACTTCATCCTGGCCCAGTTCATCAATGAG
Long Flanking Sequence:
TTTTGTCAGGTGCTCTGCAGCAGAGCTCGACTGGTGACGTACCTACCAGGGCTTCATGTTCTAGTTCATCGTGTTGTTGGAGCAAGAAGTTTCTCTGGGGCGTCAGGATCAGATGAGCCACACCTGAACACCTCAACTCCTGACATTGGTAAATGACTGTTTCCCTGTAGAATATCAAAGCCACTGTTATCTGGCGTAAAAGAGGTCATGGTAAAACATTTACAAATTAGCTTAATTAAAAAAGGCATGCAGGTCATTATTCACACATGTATTTCTAGTTGATGATGTGTAGAAAGAGTGTTTTTATTTTATATTTTTAATGATCTCGGTTATTTTCAGCACCAAGGACTGTGTGGCCGGATGAGAGCATGGGCCCATTTGGACCTCAGGATAAACGTTTCCAGTTGCCGGGTAATGTGGGTTTTGACTGTCATTTGGAGAGTCCAGTGGAGCAGAGAACCACTTCGGTCCATAGTGTGATGCCAGATGTGCTCACTGCT[C/T]AGTCCAACAACCAGAGACATGACTTCATCCTGGCCCAGTTCATCAATGAGCTTCATGTAGGATACTTTCAGAAACTACTAATTTTCTAGTCAGTCAATACATTTTCTTAATCAATAACTAAATTAGTTATAATTATGGAGTTATTAATTGTTATTATTATTTATTTAGATATTTGATTGTTATTATTAATATATATTTTTTAAAATGATCACTTTGACATTTAATATGGATAATTAATTGTAATTACTATAATAAGTTAATGGGAACATTTGTAACAAAGACACCGTAAATGAATTATAGTTTAGCTAATATTCAAATGATGTTTTTGTTTTTGAAATAAGTTACTTTATCTCACTCAAGCTACTTTTAATTAATCAAAGTTTATATATATATATAATATTATTTATTTATTTGTTTTTAGGAGGATGATAAAACGTCTACAGCACAGAACATGGATAAAGCAGAGCAGTTTTTTGATCATTCCAGTGTGGAGTGTGCCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21479
Status:
Available for shipment
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:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000012478 | Nonsense | 281 | 297 | 8 | 8 |
| ENSDART00000125370 | None | None | 188 | 9 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 24089084)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 23244870 |
| GRCz11 | 9 | 23055739 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGCATGTGATGTGGGGGACACACGCTTTTGTAGGTACTCTTTTCACCT[C/A]GGCTCCACCCAACAGCCAGATCATGAAGAAGCTACAAGGGGACCTGAGTT
Long Flanking Sequence:
CCAGACTGTGGGTTGTGATCCGACCGTGATCCATTACACCTCTATTTATAAGTACTAATAAACAGTTGTCTTATTAGTAGGCAGGTAATAAGCCAGTAGTTAATAGCATGAATTGTGACCTAAACTAAAGTGTAACCCAAACTTAAATAAATAAAATAATTAAATAAAATTGTATTTCTTAAACACAGTCATATACAGTACAGTATGCAATGAAATGCTTAAAAAAACAAAAAAGTAATATCGATACTATTAATAAAAATCTAAATTTAGATTTTCACGGTATATCAAACTTTTAGTTAACTTTGCGGTTTAGAAGTTGACCCTTAACATTTCTCAATCTTTCTGCCCTTAGTACTTCGGCTCATACACAAACAACACGCTCTTTGAAACCGATGACCGGTATCGACATTTAGGCTTTCAGATTGAGGACCTGGGGTGTTGTAAAGTGATTCGGCATGTGATGTGGGGGACACACGCTTTTGTAGGTACTCTTTTCACCT[C/A]GGCTCCACCCAACAGCCAGATCATGAAGAAGCTACAAGGGGACCTGAGTTAAAGATGCTGGCTCATCATGGGAACACTATGAAATATCAAACCAAACCTCACCTTTGAGCTGACTAGCACAATCAATAACACTTACAGCTCACAAATACACCTAATGATGCTGTCTAATGAACATTGCAGGTAATGAGTATTTATTTTTGTAAAATAAAAAGCACTTGGGGGACTTTATTGTAGGTGTGTGTGCTAAAGAGGGAGGATCATTGTGTTATTTGTCCAGCAGCTCTCTCTGTTGCCTTTCCTGTTCCACAGACCTCAAAAGAATTGAAATGTGTGACATATTGCTGTATATAAAAATCCAAATTTGGTGAATGTGAATTGGTTGTTGATAGTGGTTGTTTGTCCATTAACACAAGTGAAATAGAGCTGTGATTGAGTTTAATTTAGTGTTGTAAGCTTTCTTCATTGCTTCATGATGGGCACAATAAATAATTAAAGAGAGT
Associated Phenotype:
Not determined