ZMP
pmp22a
Ensembl ID:
ZFIN ID:
Description:
peripheral myelin protein 22a [Source:RefSeq peptide;Acc:NP_958468]
Human Orthologue:
PMP22
Human Description:
peripheral myelin protein 22 [Source:HGNC Symbol;Acc:9118]
Mouse Orthologue:
Pmp22
Mouse Description:
peripheral myelin protein 22 Gene [Source:MGI Symbol;Acc:MGI:97631]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|
Mutation Details
This allele has been removed from public view.
Allele Name:
sa26141
Status:
Less stringent filtering
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:
n/a
Mutation:
C > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000050210 | Essential Splice Site | None | 157 | 2 | 6 |
| ENSDART00000127516 | None | None | 157 | None | 5 |
| ENSDART00000142226 | None | None | 157 | None | 5 |
Genomic Location (Zv9):
Chromosome 3 (position 48060411)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 49822874 |
| GRCz11 | 3 | 50862863 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAACGCTGCTCGGGAGTGTTTTCTTTTTGACTACTTCAGAAAAATGGG[C/T]AAGTTTACACTTCTCAATAACTTTAGTCGTCAAATGCTTGATATTCTCTC
Long Flanking Sequence:
TGGTACTACATCTGGAATACGGAGACGCGTGCTTTGAGAATCTATAGTGGGATACCATAGAAAAGGCGACTTGTGTTTTCTTCCTGCTCTCTTGCATTTCAAGGATTTTTCTTCTCTTTCTCTCTCTCTTACCTGTAAGTTGGAGAACCATAGAAGTTTTCTATTTTTACTTTGGTCCTTTTTGAATGAACATTTGCATGCCATTTCAGGAGATTCTCAACCACATTTGTGTTTAGTAGTATATTCCAAGGCTATACTTTGGCAAGTTGCACAAGTTTGTTATTCAAAGTATATTTTCATCCTCACACGGTTTAAATTATTTTTAAAATAAGTTATAACATTAAGTATTAGTTTTGCATTGCCAGCTTTAGTTTTGTGTGAACACATCTTTCGTCTTCTCTAAAGGCACGGTTGGCGTGCGGAGTTTTGCAATAACTGGTTTGGATGAAAATAAACGCTGCTCGGGAGTGTTTTCTTTTTGACTACTTCAGAAAAATGGG[C/T]AAGTTTACACTTCTCAATAACTTTAGTCGTCAAATGCTTGATATTCTCTCAGAATAGGCATTTGTAGCGAGATAGCAAAACCTGTAACATATAAACTAACAGATAAACACTTTGAAGAGACGTGACGGAAAAAAGGCGGCACGCGAGAAAAAAAAGGGATGTGACTGGATTGTATGTGTGTATTTAGTTGCAGTATTGTGTTTTTGTTTTGATTAAATACAGACATTTTAAAAGCCTTAAAAGATTGCAACGGGATTAGTGCTATTATCAAAGCAATGTGTCAAGAATACAGATGTTTTCAATTAAAATGTAGATAAGAAAACAGGCGGCAGTGATAGTGTTTGGGTTGAGATACCTTTGACAAAGGCGCGGTCTTGTGGCCAGATGAGGAACTGCAAGAGTAAACATTGTCCATCACAAAACCCGCCAGGTATGTGCTTTAACTTTTATTACTTACTCTTTCTGTTCTTTTAGAAGAAACCCAAAATGCTGGTCATTCT
Associated Phenotype:
Not determined