ZMP
SHARPIN (2 of 2)
Ensembl ID:
Description:
SHANK-associated RH domain interactor [Source:HGNC Symbol;Acc:25321]
Human Orthologue:
SHARPIN
Human Description:
SHANK-associated RH domain interactor [Source:HGNC Symbol;Acc:25321]
Mouse Orthologue:
Sharpin
Mouse Description:
SHANK-associated RH domain interacting protein Gene [Source:MGI Symbol;Acc:MGI:1913331]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39737 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39737
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000031805 | Essential Splice Site | 292 | 361 | 8 | 10 |
Genomic Location (Zv9):
Chromosome 2 (position 381435)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 348103 |
| GRCz11 | 2 | 360970 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAACGGGCTCTCCGTGCCCACAGCGGCTCCAGCAAACGCTTCACTTTC[A/T]GCCCCGGCGGGCGGCGGCAGCAGCGGGCACGACTGGAGGGCGTACAGCAC
Long Flanking Sequence:
TAAACCAAATATCTATAAATTCCTAAATCAAGAAGCATTTTCCAGACTAGTACAAAATATTGTCTTGATTCCAGAAATAATGAGTCAAAATCAAGCAAGTTTTTCCTTAAAACAAGCGAAATAATCTGCTTCCAAACCAAAAACTGGTTTATTTGGCTTCCGCCATTGGCAGATTATTATAACTCACTTAATTAAGGCACATTATTTCAGAAAACAAAACTATAATACTAAGAATTCTGTTCTGTGGACAGTGGGAGATTTACAGTCTTGTTTTGTTGTCTTCAGATGTTTGTGGAGTACGGTTTTCACCCGCGGGTGCAGCGCTGGATCATCTCTCAGTGTTTGTGCTCTGACAGTCGCTCGGTGTCGTCCTATGGCGTCTGCAGGGATGGAGACACTGCGTTCCTCTACCTGTTATCCGCAGGTCACGCCAGCCTCAGCCAGCAGCAGGAGAACGGGCTCTCCGTGCCCACAGCGGCTCCAGCAAACGCTTCACTTTC[A/T]GCCCCGGCGGGCGGCGGCAGCAGCGGGCACGACTGGAGGGCGTACAGCACTCTACCACCACGCTTCAGCCACGCCAGCACAGGTCAGACGCAACACAAATCTGACATTAATATTTGATTTTTCTGCAGTATTTACCTTAGCTATTGGGATCTTTTTGGCTCAATTTGTGTGCTATTCTAAAACACGTAAAGCTGCGGTCACGCTTCACTTCTCACCCCAAAGACTTCCATTCATACCCATACGCAAGCTCGTGCGACAAGTTTCACATGTTACTGTTTGCAAAGTTCAAGCTTGGTGAACTCTGACCTATGAAATAACATCATGCAATTGTGTGAGACTAATAGAAGCTCTTGTTTAACCCTGGCCCTGTCCAGAACAGCGTACGATAATGTGACCGCAGCTTTAGAGTCTCCTAAAACAGGTTTAAATGCCTCTATGATCAGAAAACAGCATCATTTTATCATCATGTGCGTTTAATAATTGAATCAATTTGCTGTTAT
Associated Phenotype:
Not determined