ZMP
PPP1R12C
Ensembl ID:
Description:
protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:HGNC Symbol;Acc:14947]
Human Orthologue:
PPP1R12C
Human Description:
protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:HGNC Symbol;Acc:14947]
Mouse Orthologue:
Ppp1r12c
Mouse Description:
protein phosphatase 1, regulatory (inhibitor) subunit 12C Gene [Source:MGI Symbol;Acc:MGI:1924258]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24251 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24251
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 |
|---|---|---|---|---|---|
| ENSDART00000112667 | Essential Splice Site | 46 | 142 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 23 (position 6402083)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 6417298 |
| GRCz11 | 23 | 6351270 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGACATGCTAATTTAATGGGATAAACTGTAGTTTGTTTGTCTTTATCA[G/A]CTGTATGAGGATGCTCTGTCTGAGAATGAGAAGCTGAAGTCTCGACTGGA
Long Flanking Sequence:
GTTGACATGATGTTTATTCATGTGTTCAATACTTTTTCCCTGCATCATTTCCTTTTATTATGCATAACTTCATTTGTAAACTAATTAAATTTGTTTTCTTTTCATATATGGGTTTCTTTGGTTGTTACTGTCAACGGCACCTTTAGAAATATGTATTCTGAGAAAAAAGTGACGTATTCATTACTTATTTTCCCTGCTGTATGTTATGAAATTTATATGATGCAAATGTCTTCATGAAACGTAGTTTTTAGTTGTTATTCAAATTATTTTTGGCATAAAAGGAAAATCGATCCTTTTTACTTATTCAATATGTTTTGGTCTATTAATAAAAACATATCTGTGCAACACAACACTGGTTTTGTTGTCCAGGGTCACATATAGCATTTTTTGTTTATCAAGTGCAAGCAATTAGTGCTCTTCGGTTGACCAGCGTCAGGAAAGCGTCTCCCGGTGGACATGCTAATTTAATGGGATAAACTGTAGTTTGTTTGTCTTTATCA[G/A]CTGTATGAGGATGCTCTGTCTGAGAATGAGAAGCTGAAGTCTCGACTGGAGGACAGCAAACAGGAGCTCACCAAAATCCGCTCGCAGCTGGACAGAGTCACACAGGTAAGAGGTGACCGTCCCAGTAGATGAAGTAAGAGATAGCCTGAATCATCACTATGCCAAGAGGAGAGACTTGGATTAATAACACTAGCATATGCTGAATCCAGCCTTTAAAATGCTCATATCATTTGTGAAAAGCCAATCATGTATCAAGTTAGTGGTCCAACAGGTGTTGCAGCTCTCTGGAGTACCTGATTCTGATTGGTCAATCCCAACATTCCAATGTCTGTTATTCCCTGGTGGTTGAACTGATTAAACCAATAATACAGGCTGTCAGGGTATATCTCAAACTTTTTTACAGACAGATATAGTTTGAAATTATGCTATTCAGTTTGTTCTTATGTTTCTAAGTATACATTTTATTCTGCATATACAAAGCTAGATGTATCCCTTTTTAA
Associated Phenotype:
Not determined