ZMP
LOC559090
Ensembl ID:
Human Orthologue:
PWWP2A
Human Description:
PWWP domain containing 2A [Source:HGNC Symbol;Acc:29406]
Mouse Orthologue:
Pwwp2a
Mouse Description:
PWWP domain containing 2A Gene [Source:MGI Symbol;Acc:MGI:1918052]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23966 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23966
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 |
|---|---|---|---|---|---|
| ENSDART00000113852 | Essential Splice Site | 300 | 636 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 21 (position 28770117)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 29989361 |
| GRCz11 | 21 | 30026056 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGTAGTGGGAACGCTAAGGCCATAACCAGGGCTGCTGCTTTTCAGGAA[G/A]CCCACCAGAAGGTCCACTTTACTCGGCGACTGCAGCAGATCAGTGGAGGA
Long Flanking Sequence:
TCCGACCAAGACAAGTTTTGTGTGATAAATGTAAAGGGGCTGTGGTGCAAGGGGACAAACGTGAGACACGCAGAGGGCCCATTTCAGACTGTCGGAGTGATGATGCCAAAAGACGGCGTAACGACAACACAACGGCAGCTGCTAGTAAGCGACCTCGTAGTGATCCACGCTCTGAAGAAAAGGGCCGTGGTTCTGATGGGCCCAAACGGCAAGGTTCGGCTGTACGTGTGTCATCATCCACCGGCTCTACTCTGGCCCATAGTCAGGTCAAAGGTGCAGCTGCAGGGAATAAAATGGTAAAGGGGGTGTCCACTACAACATCTTCTGCCAACTCTCGAGTGCAGCTCAATGCCAAAAAAGTGCTTCAGAGCAAAAACGTTGACCACTCTAAAGCGCGAGAAGTGCTGAAGATGGCCAAAGCTCAGAGAAGACAGAAAGAGACAGACACGGGAAGTAGTGGGAACGCTAAGGCCATAACCAGGGCTGCTGCTTTTCAGGAA[G/A]CCCACCAGAAGGTCCACTTTACTCGGCGACTGCAGCAGATCAGTGGAGGAGGTCCAGGTTCCAACCCTCTGCCCCCTAGGATGCGCATCAAGCCCCAAAGGTACCGTAATGAAGAGAACGATTCTTCCACATGTAAGCCGCCTTGCTTGGAGAAAGTGCCGGGAGGGGGCCGTTTACCGTTGCCTAAACCAGCTTTGCCCCGCTGCACCTCCACGCGCTCCTCCTCCTCCTCCTGCTCTGCAAGCCAAGTCGCCACAGCTGTAGAGCCCCAGAGGCCAGGCAAAGCAATCGAGTCTCTGCTCAGCCAGGCCCAACCCGATCCCCCCCCAGCCACGGAATACAGGGAACCCCAGGCTGAGCCAGAGGAACAGGAGGGGCGGGAGGAAAAGCGGGAGACACGTGGGAGCAAGGCCGGTAACCTAGTGGTCTACATGACCATTAACCCCAGCCAGCCTGACTCCTCTAGTACCTCCATGTGCAGCATTGATAGTGCAGATGAC
Associated Phenotype:
Not determined