ZMP
LOC570350
Ensembl ID:
Human Orthologue:
SH2D2A
Human Description:
SH2 domain containing 2A [Source:HGNC Symbol;Acc:10821]
Mouse Orthologue:
Sh2d2a
Mouse Description:
SH2 domain protein 2A Gene [Source:MGI Symbol;Acc:MGI:1351596]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43244 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43244
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000127362 | Essential Splice Site | 166 | 524 | 4 | 9 |
Genomic Location (Zv9):
Chromosome 19 (position 11710429)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 11302181 |
| GRCz11 | 19 | 11220179 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTGTTGAGACTCAGCGAGTCAAAAATCGGCTTTGTGCTGTCTTACAGG[T/A]ACTTTCATTAAAACAGCGACCTGAAAAGAATTTTGGATACTAAAAACTAG
Long Flanking Sequence:
TCAAATATATATTTTATGATTGCATAAAACTATTTTTTATATAAGTGTTCCTTATATGCCATTGTACTGTTTCTGTTTAAGACGGCGGTAAAGCGAATAGATCCTGCACTGGTTTTGGGTCCCCCGAGGCCCCTGGAGGCTCTGTCTCCATGTCTGCGTGCGAATACTTTGCTGTGGTTTGAAAGAACGCAGCTGCCTCGACTGCAAACACCCGGACAACCTCTGCCCTGTTGGCTCCATGGTTTCGCTACACGCAGGTTACAGCCACATCTAAATAATTTTGCAAAAAAAAAAAAAAGAAAGAAAAATAGGTGCACAAGCAAAGTTGCATGCACACAGATGTTAAATGGTGTCAAAAACAAATATGGTTTACATGTTCACATAACCTGTGTTTATCTGTCTCACTCAGGGAAGCGGAACAGCTGCTACAGGATAAACCACTAGGGTGTTTCCTGTTGAGACTCAGCGAGTCAAAAATCGGCTTTGTGCTGTCTTACAGG[T/A]ACTTTCATTAAAACAGCGACCTGAAAAGAATTTTGGATACTAAAAACTAGCTAGAGCTAACTATAATTATAACAATCACTGTATATATATATATATAAATATATATATATATATATATATATATATATATATATATATATATATATATATATAGCATCCACACTATCACTCAATAAAGCTTTGATAACTATAAGCAGTCTACGACAGTTTTGTCGCCTACCACTTTAAATATTTGCACTCTTTAAAGCAGAGTGGATTCTGATTGGTTGTCAAAGTGTTTACTGTTAATTCACGTAAAACAAATCCTCATTCAGTCTGTCATTATAGTTTTTTTATAGAATTAGATTGATTAATTAATCTTTATAGTCCTTAATATCATTTTTTCGAGTGTTGTTAAAGTTAAAGCAGCTTACCTTTTGATTATTATGACAGATGTACAGTTTTGTTCAATAAAAATATTCTTGAACAAAATTTAGACCAACTGTTTTTCTGAATGAATG
Associated Phenotype:
Not determined