Busch Lab

ZMP

mmadhc

Ensembl ID:
ENSDARG00000005870
ZFIN ID:
ZDB-GENE-040704-50
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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
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