ZMP
EFCAB6
Ensembl ID:
Description:
EF-hand calcium binding domain 6 [Source:HGNC Symbol;Acc:24204]
Human Orthologue:
EFCAB6
Human Description:
EF-hand calcium binding domain 6 [Source:HGNC Symbol;Acc:24204]
Mouse Orthologue:
Efcab6
Mouse Description:
EF-hand calcium binding domain 6 Gene [Source:MGI Symbol;Acc:MGI:1924877]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9883 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9883
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000019765 | Essential Splice Site | 270 | 1082 | 7 | 25 |
Genomic Location (Zv9):
Chromosome 25 (position 19492956)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 18904933 |
| GRCz11 | 25 | 19002884 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTGACTGTGAAAACTATCGAAAAATCCCACCAGATTCAGTACAACTTGG[T/C]ACAGTTTTGCAAAATACACTGATGTAATATGATAAAGCCTTTATAAAGTA
Long Flanking Sequence:
GAGTATACTGTTGGTCCCAGCCATATTGACGTAGAAAATAGCAACTTTTAATTTTCCGGTCTTAGTACGTGACCTAACTACAAAAGAATCCAGTTTTAAAGAGGAAAATTATCAAAACATATTTTTTAGCAAGATGCTAATGATCTAATGGGATTCAGTGAATTATGCTAAACGAAGATAAAAATGTTCCAACCAGACCTGGAGATTGGCTGAATGGATTAAAAAATAGTCAAACTCTTAAAAGGATAGTTTTAATGTATTGTCGATAAATATGAGATTAATACAAACAAAATTCACACATATAGCCCCTTACATTGCACTCTCTAATATTATTGTTTTTTATACCCAGAATGCTAAATATTTCCTTTTCTTTCCTCCAGACTGTGGTCACATTACAGCATGAATAATGCTGATACAATATCCTACAAGGTGTTTCTTGAGAAGCTTGGTGTTGACTGTGAAAACTATCGAAAAATCCCACCAGATTCAGTACAACTTGG[T/C]ACAGTTTTGCAAAATACACTGATGTAATATGATAAAGCCTTTATAAAGTAGTTATTAATAATCGCATCAGTTTGAACAGAAGAAAAAAAAGTATAATTTTATGCAATTTATGCAAGTTTTATATCTGAATTATACATTTTCAGCACTGAATTGGGATGCTGTCAGTCGCAGTACCACAAGACCTAAAAGTAAGACAAGCTTAAGGAGGTTTTCAGGCAAATCCAGAGACAACTTGGATGACATCCAAATTAGGTTTTTGAGCAAGGTGAGTATCAAAGAGATGATTTTTTCTCACATATCTCATGAGTATTTCTACAGAAAAAAATCTGTTCTGTTGCAATAAACAGATGAAGAAGGACCATAGCCTTGTTGAAAAAGCTCTGCAAGCGTTTGACATTTCAGACAGTGGGTTTGTTTCTCTTGAGGATCTCAGATCTATTCTCAGCAATTTCCTCTTCGCCATGGATGATACTATCTTTAGGGAACTGTTGAAAAGGTAA
Associated Phenotype:
Not determined