ZMP
mterfd1
Ensembl ID:
ZFIN ID:
Description:
mTERF domain-containing protein 1, mitochondrial [Source:RefSeq peptide;Acc:NP_001002615]
Human Orthologue:
MTERFD1
Human Description:
MTERF domain containing 1 [Source:HGNC Symbol;Acc:24258]
Mouse Orthologue:
Mterfd1
Mouse Description:
MTERF domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1913660]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17146 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17146
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000006338 | Essential Splice Site | 211 | 402 | 4 | 8 |
Genomic Location (Zv9):
Chromosome 19 (position 45566531)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 44464753 |
| GRCz11 | 19 | 44060326 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACCAAGAACCCCTTCATCCTTRCGGAAAGCCTGGACAACCTTCAGGCCAG[G/A]TCAGAGAGCGAGATAAGCAAATGTATTAAACTTCTGMAAACTAKCCTTCA
Long Flanking Sequence:
GCAAGTTACGGAAGACAAAGCCCCTCCTTCCCCTGCTGCTTATTTCAATGTGACTTCAAAATGACTTCAATGTGGACAACAATCTGGAAAGATTTTGTAAAATTTTCTATTTTAATATCTTTAATACTCTATTTTAAATACTTAAAAAATTGCAAAGCATATACTTTTACCTTATTTTATGTATAATATATTATCTTTTCATTGTTCTGAATCTTTTTTTTACATTTTTATTTAGAAAATGTTTGTAAATTTTATGTGTTTTGTCAAATTTGAGACGCTGAAATGTCAATAAACTCAAAACTGTGTGCAGGTGTCAATCTGTGGGATCTGGAGCAGAGGCCTAATGTGGGCTCCATGCTGGTTCGGCTCGACTTCCAGGCAGACGTTGCACCCAGACTGCTCTTCCTCAGAGATCTGGGAGTTGAGGAGTCCGCGTTGGGTCGACTGCTCACCAAGAACCCCTTCATCCTTGCGGAAAGCCTGGACAACCTTCAGGCCAG[G/A]TCAGAGAGCGAGATAAGCAAATGTATTAAACTTCTGAAAACTAGCCTTCAGCTTTTATGGTGCATTTAATTCCACATCAGAAGTATTTTCATCAGACATTACAACCTGACCCTGGTCAACAACAAAAAAATTGCTTTATGTATATCTATTTCATGGTGGTTCAGTGGTTAGCACTGTCTGGTTCAAGTTCCAGCTGAGTCAGTTGGCGTTTCTGTGTGGAGTTTGCATGTTCTCCCCTTGTTTCCGTGACTTTACTCCACCTGCTCCGATTTCCTACCCAGTCTAAACTCATGCGCTATAGGTGGATTCGATTATCTAAATTGGCCGTAGTTCATGAGTGTGTGTAAATGTGAGTGTGCAAGGGTGTTTTCCAGTTCGGGGTTGCAGCTGGAAGGTCATCCGCTGCGTAAAACATATGCTGGAATAGTTGGCGTTTCATTCTGCTGTAGCTACATTTTGTTTTGCTTCACTTTTAGGGTGTCCTATTTGAAATCAAAGAA
Associated Phenotype:
Not determined