ZMP
si:dkey-183n20.16
Ensembl ID:
ZFIN ID:
Description:
phosphoribosylformylglycinamidine synthase [Source:RefSeq peptide;Acc:NP_001038667]
Human Orthologue:
PFAS
Human Description:
phosphoribosylformylglycinamidine synthase [Source:HGNC Symbol;Acc:8863]
Mouse Orthologue:
Pfas
Mouse Description:
phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) Gene [Source:MGI Symbol;Acc:MGI:2
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23705 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23705
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000012581 | Essential Splice Site | 121 | 1314 | 4 | 29 |
Genomic Location (Zv9):
Chromosome 20 (position 25478078)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 25549381 |
| GRCz11 | 20 | 25448471 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTGAGTCAGGTGACGAGAGTCGAGCTCTCCCGCAGACATCTCATCAAG[G/A]TTAGGAGAGCAGCTTTAAATAGACTTACATTACAGTTTTTTCCCTTGTTT
Long Flanking Sequence:
CAAAAACATTGACTAGAGTAAACCTTTAAAAATGTATTTATACATCCAACTTATATAAAGTTTACATCTGAAACTAAAACTCTTAAAAATGCATATGTAGTCGGGCCAGTCGCATTAAAAAACTGAATATGATACTTTCTCTTTTTGTCATTGTCATCATCAGTATCTCCTCTTTTTCTCTTAGGTCCTGATTCTTTAAGTGTAGCACAAAAAGACATTTTGCGCTGGTTGTTTAGTCCACCATATTCTGTCAGTTTGTTAGAGGAGCCCACTCTAAAAGCAGAACATGGAGCAAGACTGGTGGAGATTGGACCCAGGTAACATCATATTATCATGGCATGTCACTGAAAATTTTTATACAGCTTATTTCACAATTATATCTTGACCACTGTAGGTTGAACTTCTCCACTGCTTGGTCCACCAATGCTGTATCCATCTGCCAAAGTGCAGGTCTGAGTCAGGTGACGAGAGTCGAGCTCTCCCGCAGACATCTCATCAAG[G/A]TTAGGAGAGCAGCTTTAAATAGACTTACATTACAGTTTTTTCCCTTGTTTTAATCAAAAGCTCTTATTTCTTCATCCCCATATAGCCCCAGGAAGGATGTAAAGTTGGCATGAAGGACGGAGAGATGGAGAGTCTGATTTCATGCTTGTATGACAGTATGACTGAATGTATTTACGCTCAGCCAATCACATCGTTCGCAGTTGATATTCGGCCACAGGATGTGTTTGAGGTGGACATTCTGGGAAAAGGGCGTGCTGCTTTGGAAAAGGCCAATGATGAACTTGGTAAGACACATGTTTAGAGTCTGAATCGCTTTCGCATTCACAAAAAGGTGATAACAATAAGACTGATAACTCAATAATGATAAAAATATACTTTTTTGACATGTGTCAGTGTACAAAGTTGCTTTGTGTACCATGGTATTACTAATTGGGAGGCAAGTAAATCGGCTTTATTTAAACCAAATGCTTTATTCTGCGTCCAAATACTCAGACTGTATG
Associated Phenotype:
Not determined