ZMP
efhc2
Ensembl ID:
ZFIN ID:
Description:
EF-hand domain-containing family member C2 [Source:UniProtKB/Swiss-Prot;Acc:Q32TF8]
Human Orthologue:
EFHC2
Human Description:
EF-hand domain (C-terminal) containing 2 [Source:HGNC Symbol;Acc:26233]
Mouse Orthologue:
Efhc2
Mouse Description:
EF-hand domain (C-terminal) containing 2 Gene [Source:MGI Symbol;Acc:MGI:1921655]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21529 | Nonsense | Available for shipment | Available now |
| sa31733 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21529
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008737 | Nonsense | 80 | 748 | 3 | 15 |
| ENSDART00000142788 | Nonsense | 80 | 345 | 3 | 15 |
| ENSDART00000008737 | Nonsense | 80 | 748 | 3 | 15 |
| ENSDART00000142788 | Nonsense | 80 | 345 | 3 | 15 |
Genomic Location (Zv9):
Chromosome 9 (position 34738768)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 33971796 |
| GRCz11 | 9 | 33780981 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATA
Long Flanking Sequence:
TTTTGAACATACCATTGAACGAGATGGATAAAAAAAATGTAACTTATGTGTTTATTACACATTATGCATTAGTTCATTTGTTAGTAAGTAGGCAGTTCAATTGTTTAAACCACTAAAAGCAAATGAAGGAAACTGATCTAATATAATAACAGGTTAAATGGTCTGATATAGTTTGTCTTACACAATAATGAAAACAAATCTCTTTCCAGCTTGGAAAAGACAAATTTCACAAGTCTCAGCATTTTGATTATTCAAATGGAGTAGCTATGATGGTTGGGACAGAGAAGCCGGGCATTGGAGGAGATCTGCTCCTGGGACAGAGTGCAAGAGCCAAATATTCACGGTTTCCAAAAGGAGAGGGCAGTGGTGCTCCAGCATGGCTTGCCTTTGACAAACAGGTTTTTCATCATATAAGAATATAATATACCTATTTTTTCACCTAGTGCTTGGCAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATATAGAGTACGAAAGTGCAAGATTTACTTCTACCTGGAGGATGACACCATACAAGTGGTGGAGCCAGAGTTCAAAAACAGTGGCATCCCACAAGGTGAACCATCAGAATCAAACATTTAGTTTCCAGATTAATGACAAACCAGTTAAAAACATCTTGTCTAAATTCAGCTGTTCTTCTTCTGTACAGGAACCCTGATTCGGCGCCACCGCATTCCTCTACCAGCTCCTAAAGATGATTGTTTCTACAATGTGCACCATTTCAACATCAACCAGGAAGTCGTGTTTTATTCCAGAAACTTTATGATCACAGACTGTGACCCTTTCACTCGCAACTTTTTGATAAAAATGGGAGTCCGACTGAATCCTCCTGCTTCCACACCAGCGGATCCCTATACTACCCTTCGACAAGAGGCAAGTGAGCACCAGGGATCTAAATAGCAATATCAGAACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31733
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008737 | Nonsense | 80 | 748 | 3 | 15 |
| ENSDART00000142788 | Nonsense | 80 | 345 | 3 | 15 |
| ENSDART00000008737 | Nonsense | 80 | 748 | 3 | 15 |
| ENSDART00000142788 | Nonsense | 80 | 345 | 3 | 15 |
Genomic Location (Zv9):
Chromosome 9 (position 34738768)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 33971796 |
| GRCz11 | 9 | 33780981 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATA
Long Flanking Sequence:
TTTTGAACATACCATTGAACGAGATGGATAAAAAAAATGTAACTTATGTGTTTATTACACATTATGCATTAGTTCATTTGTTAGTAAGTAGGCAGTTCAATTGTTTAAACCACTAAAAGCAAATGAAGGAAACTGATCTAATATAATAACAGGTTAAATGGTCTGATATAGTTTGTCTTACACAATAATGAAAACAAATCTCTTTCCAGCTTGGAAAAGACAAATTTCACAAGTCTCAGCATTTTGATTATTCAAATGGAGTAGCTATGATGGTTGGGACAGAGAAGCCGGGCATTGGAGGAGATCTGCTCCTGGGACAGAGTGCAAGAGCCAAATATTCACGGTTTCCAAAAGGAGAGGGCAGTGGTGCTCCAGCATGGCTTGCCTTTGACAAACAGGTTTTTCATCATATAAGAATATAATATACCTATTTTTTCACCTAGTGCTTGGCAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATATAGAGTACGAAAGTGCAAGATTTACTTCTACCTGGAGGATGACACCATACAAGTGGTGGAGCCAGAGTTCAAAAACAGTGGCATCCCACAAGGTGAACCATCAGAATCAAACATTTAGTTTCCAGATTAATGACAAACCAGTTAAAAACATCTTGTCTAAATTCAGCTGTTCTTCTTCTGTACAGGAACCCTGATTCGGCGCCACCGCATTCCTCTACCAGCTCCTAAAGATGATTGTTTCTACAATGTGCACCATTTCAACATCAACCAGGAAGTCGTGTTTTATTCCAGAAACTTTATGATCACAGACTGTGACCCTTTCACTCGCAACTTTTTGATAAAAATGGGAGTCCGACTGAATCCTCCTGCTTCCACACCAGCGGATCCCTATACTACCCTTCGACAAGAGGCAAGTGAGCACCAGGGATCTAAATAGCAATATCAGAACTT
Associated Phenotype:
Not determined