ZMP
si:dkeyp-51f12.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
BSND
Human Description:
Bartter syndrome, infantile, with sensorineural deafness (Barttin) [Source:HGNC Symbol;Acc:16512]
Mouse Orthologue:
Bsnd
Mouse Description:
Bartter syndrome, infantile, with sensorineural deafness (Barttin) Gene [Source:MGI Symbol;Acc:MGI:2
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa36969 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa36969
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000122298 | Nonsense | 163 | 175 | 3 | 3 |
Genomic Location (Zv9):
Chromosome 20 (position 7426118)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 7261511 |
| GRCz11 | 20 | 7251390 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAAATCCTCCAGACCGGACCCCAACAGAGAGATGTACTATGGTAGAGTC[A/T]AGGACTCATGTAATGTCACATCTGAGCTGGAGAGTGAATAGTTTCTGTTT
Long Flanking Sequence:
TGTTTCTATGCACAGCAACTTTTGGACTGAACTATTAGTTAATTAAAATATTTTTATTAGGATCATAGCAATCGCCAAAACATTTTTTGTCATATTTAAAACATTTTTTTGTCATATTAATAACAATGTCATATTTGCATTTGATCCAGACTTGACTGAGCTGATGACAATTATTGACAGTTGTCATAAGCATGCATAAAATCTGTGAACACACCTACAAGTAAAGTGTTACCAAATAAAATGCATAAAACTCACATTTATTTTCCTGTTATAGTTCTGCCAAACCAGTAAAAGCTCCTTTGGCTGGCTTCTGTGATGATGATGAAGCAGAAATTTCTGCAGACCCAAAGCTCCACACTGAGAGCAAACGCAGTGAGCACGTCATCGTCCTCCAAACGTGTCGAAGCTCTCCTAGTGTTCTGACCTGCTCCAGCTCTCCACAGACGGACAGAAAATCCTCCAGACCGGACCCCAACAGAGAGATGTACTATGGTAGAGTC[A/T]AGGACTCATGTAATGTCACATCTGAGCTGGAGAGTGAATAGTTTCTGTTTATCGAATAGTTTAACATGTTAGCTTCTGTTTGTCCCTAACCCTACACTGTTAATGATTTTCTGGAGAATCTACAGTACCTTACTGTAAATCATTTACATCGATAATGCTGTATTTACATTTACAGCACCATTTCTCTTGCTGTTTATCTTTTTACAGTATTGTGCCTTTACTGTAAAACATACCTTAATATTAACATTCACCTACAGTAACATTGCTTAACTGTTCTACAGTAAAATTCAGTTCATATTACAGCAAATGCTGTGTAATTGACAAAAATTGTTAACAGTGTAACCCTAACATTTGACGTCTGAAATAAAACAAGATTTGCCTGAAACCTTATACATTCCTTTCGGACCCTGTGTCCATTACAGTGGACATCACATGTCAGCCCATGTGTTTTGGGGTTCCTGAACATTTCATCTAATTTAAAGCCTGCAGTGCATATAGTG
Associated Phenotype:
Not determined