ZMP
LOC567794
Ensembl ID:
Human Orthologue:
WBSCR17
Human Description:
Williams-Beuren syndrome chromosome region 17 [Source:HGNC Symbol;Acc:16347]
Mouse Orthologue:
Wbscr17
Mouse Description:
Williams-Beuren syndrome chromosome region 17 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:213759
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22607 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22607
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062191 | Nonsense | 303 | 617 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 15 (position 15554106)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 16599069 |
| GRCz11 | 15 | 16535091 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCCCTCCATAGATAACATCAAAGATGAGACGTTTGAACTGGAACGCTA[T/G]GAGAACTCAGGCCACGGCTATAACTGGGAGCTCTGGTGTATGTATATCAG
Long Flanking Sequence:
CCATAGCATTCGTTTAAAGACAAAATGCAGCCATACACACTTTTGGCTACATCATTCGCGATCTTCAGAAATATAAATAGGGCTACGTTTTCAGAATGAGCCCAAGTTGTATATATCTGACCACTAATGTAGTTTCTCTAATCAGATCATGAATCATGCACACTAATATCTATATTTAGTGCTGTTCAGATGAAACAGATTTTAATGGCACGTGTAAACAGGGTCTTGATGCATGTACCCTCTGTAGGTCCATCTAATTGGCTGATGTGAGGCGAGAAACCAGCCAACACATTCTGAAGCCAGGATTAGATTTAGCTTCACAGCACAGTTGAAGAAGTGTTATTAGAAGTGTGCTATACAGTTTTGCTTATAATGATCTAACCTCTGCATCCCCTTGTCAGGGCTGAACCAGTTCTGTCTAGAATCAAGGAGAACCACAAGAGGATCATCTTGCCCTCCATAGATAACATCAAAGATGAGACGTTTGAACTGGAACGCTA[T/G]GAGAACTCAGGCCACGGCTATAACTGGGAGCTCTGGTGTATGTATATCAGCCCACCCAAACAGTGGTGGGATGAAGGGGACACTTCTGCACCTATCAGGTATGGTCCTACTGAACCTATTATGTTAGATCTTTCGTTCTGAACGCTTGCAATTCACATTATTCATACTTTGGTTTAGTAATTTGTCATGGGTGACCAGGTGGCAAGGTTTCACATTGTATGTTTATGAACATTAGCTTTTGGCCCAATTCCATCGTATTTTTAAAAAAGCATGAACATGAACACCATTTTGAATATATTAAAACATGTGCCTGTTTTTGTAAAAATTGGTAATAATGACAAAGATTATAATTTGTGCATCTCTTGACTTCCGTGGGCAGCCATGTTGCCGTTATAGCTAGTGTATTCTTGGAAATTTTTGTACCCCTTGGTTTCGAGTGTGGTCCTGGAAAATTTCAGTTTCAAGGGCTATCTAATCCTTCTCCTTAACCATACGCCTTC
Associated Phenotype:
Not determined