ZMP
LOC100333959
Ensembl ID:
Human Orthologue:
SAMHD1
Human Description:
SAM domain and HD domain 1 [Source:HGNC Symbol;Acc:15925]
Mouse Orthologue:
Samhd1
Mouse Description:
SAM domain and HD domain, 1 Gene [Source:MGI Symbol;Acc:MGI:1927468]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18448 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18448
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000112794 | Essential Splice Site | 420 | 463 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 59296787)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 57757745 |
| GRCz11 | 1 | 58493427 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTACAGCAAGMGAAAACCCAATGAAGCTTCAACYATTMAGGATTATCAGG[T/G]AACATCGACACTTTTTAGCCGTTTTATATTACAGAAATGTATAYGTGATC
Long Flanking Sequence:
AGTAAGCTAATCCTGATTGGTCCTCATGCGTGCATTAAAAATGCTGATTGGCTAACAGAAAAAACCTTATAGAGCCAAGCGAGAGCAAGTGTGTAGATAAACCATTTTTGTTTTTTAAATAAAAAGTCATAAAATGTAAATAACTAATAAAAAATCACATAATGTGAATAAGTTGTCATTTATGTGAATAACTCAATTTTGACAAAAATGTCTTATAATTCCAAGGTGACGAGTTGTAAGTGCTCTGTTTAACTGCACTTGAAAATATTTGAAAAATATTTTTAAAAATTCACAGGAGGGGAAATAATCTCTATATATTATATTGCTCTATATAAATAATGTCTATACCAAACACTTAAATCTTTACAAAGTATTTAATCTCCTATTATGGTAGGTGGTTGATCTGGATCATGGCATGAAGGACAAAAACCCCATTGAACGTGTTTATTTCTACAGCAAGAGAAAACCCAATGAAGCTTCAACCATTAAGGATTATCAGG[T/G]AACATCGACACTTTTTAGCCGTTTTATATTACAGAAATGTATATGTGATCATTTATTAGGTACATTTATCAGTCACATAGCTTGAATATTATGAATACTATATATACACTATATATGGAAAGTACACTACACAATTATTTGCAATCATCTTATTAACTTATGTCTGCTTCTGAACTGTATTATGGGATTTTGATCTTTCTTCCAACAATTTTTAACCTTGAAAAGTTCTAAACAGTGACTTTAATAAACATGTTCATTTTCTGTTATTTTACACACTTATTTCTGTAACATTTCCTATACATTATATTATTTTAAAACTATTAAACTGCTAATAAATGTCACTTTGTCAAACTGGAGAGTCGAATTTTCAACATCCCATAATGCAGTTCATGACTGCAATTAAACACAAATACAGAAACTGTTTAATAACATATTTTGTACAGTGTAATAATCAGCATAATTTACACCCAGCTGATTTCTATAGCAGAATAAAAATTAAT
Associated Phenotype:
Not determined