ZMP
LOC100334391
Ensembl ID:
Human Orthologue:
PRTFDC1
Human Description:
phosphoribosyl transferase domain containing 1 [Source:HGNC Symbol;Acc:23333]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa821 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa821
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114700 | Essential Splice Site | 211 | 225 | 9 | 9 |
Genomic Location (Zv9):
Chromosome 24 (position 6787962)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 6628032 |
| GRCz11 | 24 | 6657361 |
KASP Assay ID:
554-0725.1 (used for ordering genotyping assays)
KASP Sequence:
TTCTGCTTTATTTATCACTTGACTCANNNNAGCGATGTGTTCCCCTTCAC[A/T]GCACATCTGCGTCATCAGTGAGACGGGGAAGCAGAAATATAAAGTGTGAC
Long Flanking Sequence:
ATCCGGTACTAGTAATGTGTACCCTATAAAGTGACCAGTGAGTGTATATATATACATACGTTTCAAATGGAGTTTGACTGGCTATGTTTGTGGGACATCAAAACACAGCACAACAAACTGAAATCATAACCAGTAACTAAAAACTGTAAATGCTATAAAGCTGCATTAAAAAAAGCCTCTCCACCTCAAAGCTCATCAAACAGCATTATATAAGAGATGAATCTCAGTCATCTGAACCTTCAGCATGAATGTCATTGCGTTGAGCAGCACTTGGTGAACATCCAAATGAAATCTGGCATGCAGAACAGCATTCGTCTTTCCTAGAAAACTCTAATCATCCTCACCCATCACGTGTACAATCCTCTCCTTAAGCTGTAAATGTGATGGAAAACATCTCTCGGTCAGAAGCAGAAGCAAACATTTCTGCCGCGTTATTTTTACAGTCTTATTTTCTGCTTTATTTATCACTTGACTCATGTGAGCGATGTGTTCCCCTTCAC[A/T]GCACATCTGCGTCATCAGTGAGACGGGGAAGCAGAAATATAAAGTGTGACGAAGCTCCCTTCGAGAGGAATGGACATTTATATTACCGTAACAGATGAAAAGCTCGCTCTGACACAAGATTACTGTGTTCTCCAATCAGAGATCTGATATCTGTAACTGACATGCTCAATTATCGTTGAAATATTATATAATTTGTTTTGCATGTATTGGGTGAAATCATATCGCAATACTAAAAACATGATATGATGTGGAAAACAGACTTTCTCTGATTGGTTTTAAATGCTGTATTCGTGTAAGAGCCCAGCTGTTCATTTGGGAAAGAATGACTTTTTTTGAGAGACCATCTATGCACTGAAGACATCGTATCCATTCCAAAGCTTACATCATTCACTTACTGTATGGATTCATCCATCCATGCTGCTTTTTACAATGCAAACTGTATAAAAGTAGGTTTTCGGAGATCAGCAGAAAAACAAAACAGTAGAATCAGTTAACCCTTG
Associated Phenotype:
Not determined