ZMP
ptcd2
Ensembl ID:
ZFIN IDs:
Description:
Pentatricopeptide repeat-containing protein 2 [Source:UniProtKB/Swiss-Prot;Acc:Q566X6]
Human Orthologue:
PTCD2
Human Description:
pentatricopeptide repeat domain 2 [Source:HGNC Symbol;Acc:25734]
Mouse Orthologue:
Ptcd2
Mouse Description:
pentatricopeptide repeat domain 2 Gene [Source:MGI Symbol;Acc:MGI:1916177]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20470 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20470
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000051279 | Essential Splice Site | 307 | 381 | 9 | 10 |
ENSDART00000114981 | Essential Splice Site | 307 | 381 | 9 | 10 |
Genomic Location (Zv9):
Chromosome 5 (position 36876529)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 34658478 |
GRCz11 | 5 | 35258631 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCAGAGACTCCAGTGCTGGTGAGGAAACCAGAGTTTTCTCGAGAAGTGG[T/A]AAGATATCAACTACACCAGTCGAGTCTCCACACACGTACTCTACTTATTC
Long Flanking Sequence:
CATTGCCCATATTCACTGAGAAATTGATAAAAATATTCATAATGGCGTGTACTCAATTATGCTGAGCACTGTACACACATTTTGTATGGTACAGTATATGATGCCATATGTCGTGCGTTGATTGATCTAACATCACATTTTAGTATCTAAATGGCATTTGGATGTCACTGAATCATCACAGATGGTGGTGCATCATGCTATATTTACAGTGAATCTATTTTGTGGTTGTAGAATGATCTAGAAAGAGCCCAGATCTTCTATTCTCACATCATGAGCACAGGGACTCGGCTATGCCAGAACCTGAGGGTAAGTGTGGCTTATATGTAAATCTTCAGTCTTGACAAAAAGAGTTTGCATACTAAAAGTGTAAGCGCTCTCTTTTCAGGTTTTCATATTGGCTGTAAAAGGGTCCATGAAAGAGGCAGTTTATGTCCTCAAAACAGCCAGAATATCAGAGACTCCAGTGCTGGTGAGGAAACCAGAGTTTTCTCGAGAAGTGG[T/A]AAGATATCAACTACACCAGTCGAGTCTCCACACACGTACTCTACTTATTCTTCAGTGAATTATCGACACACAATGAATTATGGACACAACAGTATTAGCGATACACTGTAAAAACCCCACAGTCAACTTTGTCGAATGAAATGAGTGTAGTTAACTGAACTGACTGAAAGTTAATTCTACTCATTTGAAAAGAGTTTTGAACTCAGTAAAGGTAATTAGTTAATCAAGTGCCTCATTACTTTAAATAGAGTTCACAGTACTTATATAGATTAGTTTTGTAACTCTAATGGTTTTTAGCAATCGGTTTCCTCAAACGGTTTGAGTTTCTTTAACTTACTGGGTTTTACAGTAATACAGTTCACAGTACTGATTTGGATTAGTTTTTGAACTTAAATGGTTTGTTGCAACCGATTTCCTCAAATGGTTTGAGTTACCTTAACTTTTTATGTTTTACTGTGTATAAAACAAAAGTAGTGATATAAAGCTCAAAAGTAGCTGCC
Associated Phenotype:
Not determined