ZMP
ofd1
Ensembl ID:
ZFIN ID:
Description:
Oral-facial-digital syndrome 1 protein homolog [Source:UniProtKB/Swiss-Prot;Acc:Q7SZK7]
Human Orthologue:
OFD1
Human Description:
oral-facial-digital syndrome 1 [Source:HGNC Symbol;Acc:2567]
Mouse Orthologue:
Ofd1
Mouse Description:
oral-facial-digital syndrome 1 gene homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1350328]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa34792 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa34792
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000000552 | Nonsense | 837 | 902 | 21 | 23 |
| ENSDART00000099672 | Nonsense | 371 | 436 | 9 | 11 |
The following transcripts of ENSDARG00000000529 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 9 (position 56745532)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 55153346 |
| GRCz11 | 9 | 54742859 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGGAACAAACACAAGAGCAGCGTGATGATGCTGGGGGTCATGTGACTT[C/A]AGCGGCCTCACCGACTGGAGGAGCAGAAGAGGCCAATCCGCTGCAGAGAT
Long Flanking Sequence:
ATTTAATCCCGTCTGATGCTCCACGGTGTTGCTGTTGTTTTGATTTTGAGATGTTGTGGGAATGTAATACACATGCGCCAGTCATTGCCGTGGTGTAATGTAAACGTTGATATGGACGACAGTCATGTGTTTCCATGTTGGGACTCTTATTTCTGATGTTTACTTCATTGAATAACAGTAAATAGGCTGTGTTCTTCAGCATTATACTGGACAAGCAGCTTTTTGTGTTTTCCAGATGTACAAATATCATCATCATCATCATCATCATCATCATCACAGCGTGAGGAAGAGCAGCAGAGAGAGACACACACACTCCAGCAGCAGCCGGTGAGATCAGCATATCTTTACTACTGTTGACATTATAGTTTCAGTTACAATCAAATATGAGTTTATTTCCTGTATTTTTCCTTTTATTTGTTCACTGCATGACCCCGGACCGCAAATCCAGCATGAGGAACAAACACAAGAGCAGCGTGATGATGCTGGGGGTCATGTGACTT[C/A]AGCGGCCTCACCGACTGGAGGAGCAGAAGAGGCCAATCCGCTGCAGAGATACATGCAGATGCTGATGCAGGACAAACAGCAGGAACAGGCGAGTGAACAACATCTAGTCTAATATTATTTACTGTCATCATGGCAAAGAGAAAATAAATCAGTTATTAGAGATGAGTTATTTAAACTGTTATGATTAGAAATGTGTTGAGAAAATCGGCTCTGTGTTAAACAGAAATTGGGGGACATTTTCAGGATGGTGAATAATTCTGACGAACTGTGTGTATATATATTTATACAAACCTTTATTTAAATATTTGAACATAATATCATGCAGGGCTGCAGGATCTTGGAAAAAAAACATAGACTGTAAAATATATGGACGTTGTATGCGTGATGTCACTTATAGGTTTCTGAAGAACACAAAAGAAGCCATCAGTAGGCGTGGCCAACCGTCGCCAAACACTTCACACAAAGCCAGAGATGAACATCTGATTCCATCCTGAATGAAT
Associated Phenotype:
Not determined