ZMP
wbscr27
Ensembl ID:
ZFIN ID:
Description:
Williams-Beuren syndrome chromosomal region 27 protein [Source:RefSeq peptide;Acc:NP_001035471]
Human Orthologue:
WBSCR27
Human Description:
Williams Beuren syndrome chromosome region 27 [Source:HGNC Symbol;Acc:19068]
Mouse Orthologue:
Wbscr27
Mouse Description:
Williams Beuren syndrome chromosome region 27 (human) Gene [Source:MGI Symbol;Acc:MGI:1933146]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43656 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43656
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000101219 | Nonsense | 83 | 235 | 3 | 6 |
The following transcripts of ENSDARG00000069507 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 25179403)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 25762740 |
| GRCz11 | 21 | 25799345 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTTTTCAACGATGACAGAGAGAAGGCCACTGTTCTGGATGTGGCCTGT[G/T]GAACAGGACTGGTCTCCAAACACGTAAGTATTGCTTCATTTGGATTCTGA
Long Flanking Sequence:
TGCTTGTCCTAAAACTTTTTCATAACTGAAACAAGAGGTGTCATAACGTTAACACAGCTGTCATTAAAATTGTATTAACATGTGAAGCTTTCTGGTTCTCAGAATCTTTTGAAATGAAAGATCTAAAACAGAAAATACATTTGGACTATTGTTATTGTTTACATCCCTCAAAATGGTAAATAATGTTTCATTTCCCCTGAAGGATGGCAAACACCAGCCGGACCTTTTCTGATGTTAGGAATGTGATTCTGTCGGCTCATAAAAACACAGAGGCCCAGGATAAGGTGGGCTTCTATGACACCTGGGCTGATAACTATGAGCAGGTAAACTTTAGGCTGCAAGAATTTCTTCCTTTTTCAGAAAAGCTATTTCAATTCTAATGTTTTTTTTCTCAGGATGTAGCTGTGCTGGATTACAGAGCCCCGTTGCTGGCAGCCGAGTGTGTGAGCTCGTTTTTCAACGATGACAGAGAGAAGGCCACTGTTCTGGATGTGGCCTGT[G/T]GAACAGGACTGGTCTCCAAACACGTAAGTATTGCTTCATTTGGATTCTGAGCCTGCAATGAGCCTCCTAAATCAAAGAGTAGTGTGATTTTATTTTCTCAATTGATAATTCTTCGAGGAAAGTTGAAGAGAATGGGGTTTCGTCACTTCGATGGAGTAGATGGAAGTCTGAGGATGCTGGAGGGGGCAAAGAAAACAGGACTTTATAAGCAGCTTATGCATTGCATGCTGGGTCAAGACAGAATTCCTGTTAAAGCCGGTAACGAACCATACCATGCTGGAATGTTTTTGACGTTTACTGTCAAAGTTTAACTGAATAATCTAGGTTTTCTTATCAGAATTGTATGTTTGGATCTCATTTTTTCAGTTTATGGCTGTTGTAATAATGATAACCAGTTAGAGAGTTGTCACTAGAAATGCTGGTTTAGTGATTAGGATATTCTCAACAAAATATACTGCACATTTTAAGTAGTTCTAAACAAATAATCCTAACTACAAAAC
Associated Phenotype:
Not determined