ZMP
efhc1
Ensembl ID:
ZFIN ID:
Description:
EF-hand domain-containing protein 1 [Source:RefSeq peptide;Acc:NP_957261]
Human Orthologue:
EFHC1
Human Description:
EF-hand domain (C-terminal) containing 1 [Source:HGNC Symbol;Acc:16406]
Mouse Orthologue:
Efhc1
Mouse Description:
EF-hand domain (C-terminal) containing 1 Gene [Source:MGI Symbol;Acc:MGI:1919127]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa25146 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa25146
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023058 | Essential Splice Site | 95 | 554 | 2 | 10 |
Genomic Location (Zv9):
Chromosome 20 (position 47880202)
KASP Assay ID:
554-7899.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACCTGCCACTAGAGTTCATACCGGCACACGCTGCTTATGACAAGAAGG[T/C]GAAGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAT
Long Flanking Sequence:
TGTTTAACACTAAAGAAGATATTTTAAAGCATGTTAAAAACCTGTAACCATTGACTTTCATAGTAGGAAAAACAGATATTATAGAAATCAATGGTTACTGCTTTTTAGCTTTCTACAACATTAATTTTCTGTTCAAGAGAAGAAAGAAACTCATACAGATTTGAATTGAATATAAAGGGTGAGTAAATGATGACAGAGTTTTCAGTTTTGGGTGAAGTGTCTCTTCATATCCCTATGATGTGCATAAATCATGTTGTTCCATTCTTCTGTCCTCCAGAAATCTGCTTTCCACCGAGCTCAGACTCTTGATTTTAAGAACGGGTACGCTCAGCCCCGGCGGCCCGTGGTGGGTATCGGTCAAGACCCGCTGCTGTCGGTGAACATCAGTCACAGCGAGAGGAACCAGCTGATCACCGACATCCCTAACCTGACCTACGGTACCGATAGATCACACCTGCCACTAGAGTTCATACCGGCACACGCTGCTTATGACAAGAAGG[T/C]GAAGATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATAGTTCTTTCTGCAGTTTTCTCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATTGTTCTATCTATCGTTCTATCTATCGTTCTATCTATCGTTCTTTCTGTAGTTTTCTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCT
Associated Phenotype:
Not determined