ZMP
dhtkd1
Ensembl ID:
ZFIN ID:
Description:
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial [Source:UniProtKB/Swiss-Pro
Human Orthologue:
DHTKD1
Human Description:
dehydrogenase E1 and transketolase domain containing 1 [Source:HGNC Symbol;Acc:23537]
Mouse Orthologue:
Dhtkd1
Mouse Description:
dehydrogenase E1 and transketolase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2445096]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa44234 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa39471 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa44234
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 |
---|---|---|---|---|---|
ENSDART00000003252 | Nonsense | 70 | 925 | 2 | 17 |
Genomic Location (Zv9):
Chromosome 25 (position 8318128)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 7930652 |
GRCz11 | 25 | 8054744 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTGTCTTGTGTAAACAGATCACGGACTGGCGAGACTGGTGGAGGCCTAT[C/T]GAGCACATGGACACAAAGTAGCTAAAATTAACCCCTTACTACCACAAAGT
Long Flanking Sequence:
AACGATTCTCCCCCCGCTATCGTTTATTATGGCTGCGCTCTAGGATGCGTGGCTCTTCGGCGAAACTTGTCATCGTCTTTTAACCAAGTTTACCTTATTTATTTACGTCATGTCAGCGCGCAGTATGCTTATACACCTCCCTCGGCTTTTGCACCGCTCCTTTGGTGCCAGGAGGTCGTTTTTAGCGAATTTATACCACACTCAGCGTGGTGTGTACGGTTTCAGACCGAGAGACGGTCCAGAAAGACGGGCAGAGTTAACGCAGATCTCCGCTCTTAACCGAGGTACTCACTTGAATGTTCTATGTATTATAATGTTTTGCTTTAGAGACACAAAACCTCAACGTTGCTATTGGCTTGCTTCTTCCTAACGTTTCAAGCATAAATATACACAAGATGCTATTTTTCTGCATCGCTTTAATGTACAGAGTGGGTTAATGTATTATAAGCTGCTGTCTTGTGTAAACAGATCACGGACTGGCGAGACTGGTGGAGGCCTAT[C/T]GAGCACATGGACACAAAGTAGCTAAAATTAACCCCTTACTACCACAAAGTCCCGTGCTGGAGAGTGTACCGGAGATAAGCCTGCTGAATGGAGCTGTTCGTGGAGTCCTCAACACTACCGGTTAGCTCAGTGCTGTTTCCTGGTTCATAGAGCTTATTGTTATGTTACGTCTGACTGTAGGAATGTTCCATGTTTGATACCAGTTAAACTCTATATGAGTGACACTGCAGAGCATGTGTATAGCATGAACACATGGGCGGACTTAGTGATTTGGGGGCCCTAGCATTTTTGAAAAATAAACTGCATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACACACAACAGTTTTGTCTGGTTCTCAAATCTGATTGGCTGAAAGCTGTGTGATATTCTGCAATATCACAACTCCTACAGCCTCTTTACCCTTTGTGTATTACTCCGCACACACAGCAAAAAGCTGACACTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39471
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000003252 | Nonsense | 755 | 925 | 13 | 17 |
Genomic Location (Zv9):
Chromosome 25 (position 8301461)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 7913985 |
GRCz11 | 25 | 8038077 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACATGGCGGTGGTGAATCCCACACTTCCAGCTCAATACTTCCATCTTT[T/A]GAGGAGGCAGATGATCAGAAACTTCCGGAAACCGCTGATCGTGGCCTCTC
Long Flanking Sequence:
ATTGCTTTTAAAGAGATTATTTGACTTTACTTTAAAAAAGTGAGTAAACCCATTATCATAACTCAATTTTTATAATTATGCACAATCTTTGTTTATTTTATATCATTTAACTCAGACTTACTCACTTTTTTTAAGTAAAGTCAACTATTTGCTATTTACAGTGTATTGTGCAGATCATTTGTCAAATATATATTCATAAAGCCTAGATCCTGTTGTTATTCGCTTTTTAAGGTGAGGCTAAATGGCTCCTGCAGAGTGGACTGGTCATTTTACTGCCACACGGGTACGATGGGGCCGGTCCTGAGCATTCATCTTGCCGAATCGAGCGCTTCTTACAGGCGAGTGCTAACAGGACTCTGTCTCATGGTATCTCTGATCATCTCTCTAACTGTGTTTTATCCTCCTGCAGCTCTGCGACAGTAAAGAGGAAGGTGTGGACGGGGACACGGTCAACATGGCGGTGGTGAATCCCACACTTCCAGCTCAATACTTCCATCTTT[T/A]GAGGAGGCAGATGATCAGAAACTTCCGGAAACCGCTGATCGTGGCCTCTCCCAAGACTCTGCTGCGCTTTTCTGTGCGTTTCAGATGTGAACGCTCTCTATCAATTGCTTGTGTTTTTGCTTTAACTTTTAAATAAGACGTATTTTCCTCTGTTTGCCACTAGGGGGCAGTGTCAGGCTTGTCTGATATGGGACCAGGAACGTCCTTTAAGCCGATTATTGGTGATTCTTCTGTGAACCCTGCAAGGTATCCTTCTTTCTTTTATTGACTTTTTATTAAATTTAGTTTTTTATTAACTGTATTGTTTGTAATAAATAATATAATAAAATATGCTGACTGAAGCTGCCTTTATTTGTTCATAAATGCAGAATTTAATATAATATTGTATTATATAATGGTATTTTAATGTATATTTAAACATATTTATTCCTGTAATGCAAAGATGAATTTGTTACACCATTACTCCAGCTCATAATCCTCAGAAATACAATTTATTTGCC
Associated Phenotype:
Not determined