ZMP
wbscr22
Ensembl ID:
ZFIN ID:
Description:
Williams Beuren syndrome chromosome region 22 protein [Source:RefSeq peptide;Acc:NP_001076348]
Human Orthologue:
WBSCR22
Human Description:
Williams Beuren syndrome chromosome region 22 [Source:HGNC Symbol;Acc:16405]
Mouse Orthologue:
Wbscr22
Mouse Description:
Williams Beuren syndrome chromosome region 22 Gene [Source:MGI Symbol;Acc:MGI:1913388]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa35787 | Missense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35787
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:
Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000093074 | Missense | 91 | 282 | 5 | 12 |
Genomic Location (Zv9):
Chromosome 15 (position 1753293)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 1793178 |
| GRCz11 | 15 | 1758087 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGTTTTTTTATTTATTTATCATGGCGTCGTTGTTTTTGTTCAGATGTG[G/A]CCTTGGAGCGAGAGGTGGAGGGAGATCTCCTGCTGGGCGATATGGGTGAG
Long Flanking Sequence:
GAGAGGTTTAGGATGGTAATGTCATGTTTACCTGATTTAATCTGCTTGATTTCGTCAGCTGTGGCTCTGGCCTGAGTGGGGATTATCTGTCTGAAGCCGGACACTACTGGGTGGGTGTGGACATCAGCACCGCCATGCTGGGTAAATAATACATGCTTTTTCAACCCGTACACCCTGCTCACATCACATGCAAATGATTTTTGATATTTATTTTTTTCACATTTGAAAACATACTTAGCCACGCCCCTCTATCTGTCCGTTTCGTCAACAAACAGAAATGCCTACTTTACTACATCCAATCAGCTCACAGTAGAAAAAACAAGCCACGCCCACTGTTTGCTCATTTAATATTCTACTTCTCTAGGAACTGCTTCACAATATGAAACTGACAGCTTTCAGTTCATGCGGACTTTGGCCAAGTTGAAGGAGCGATTACTCAAATCTGTCTTGTCTGTTTTTTTATTTATTTATCATGGCGTCGTTGTTTTTGTTCAGATGTG[G/A]CCTTGGAGCGAGAGGTGGAGGGAGATCTCCTGCTGGGCGATATGGGTGAGGGAATGCCCTTCAGACCGGGCATGTTTGACGGGTGTATAAGGTATAATCTCTTCATGACTTGATGTAAAATCAGAATTCAGTTTGTTTATTTCTCTGCATCAGTGGTTCTCAAACTGTGATGCGTGTACCACTAGAGGTACGCAGGCTTACTTATAGTGGTACGCAGAGGAATCACTGAGTAATGAAAGAAAAAATATATTCAATTTTAATAATTTGATGCGTACGATAACACCGATGTGATCAGACATGGCTGTTTTCTTAAAGCGCTGTGCTTAGAATGTTTACTTTAGTGCATCGAGTCATTAGCTGCTAAAAATCAATCTAAATGAGGCAGAACAGGCCACAGACCAGCACCGGTCATAGATCAATTAGTACAATCCGCACAAATAAATTATTATTATCTGAGTCTGAACGATCCTTTATTTTGAAAAATCTTTTATTTTGAAAAA
Associated Phenotype:
Not determined