ZMP
slc12a3
Ensembl ID:
ZFIN ID:
Description:
solute carrier family 12 member 3 [Source:RefSeq peptide;Acc:NP_001038545]
Human Orthologue:
SLC12A3
Human Description:
solute carrier family 12 (sodium/chloride transporters), member 3 [Source:HGNC Symbol;Acc:10912]
Mouse Orthologue:
Slc12a3
Mouse Description:
solute carrier family 12, member 3 Gene [Source:MGI Symbol;Acc:MGI:108114]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa8732 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa8732
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000010998 | Essential Splice Site | 770 | 1012 | 19 | 26 |
| ENSDART00000145340 | None | None | 156 | None | 2 |
Genomic Location (Zv9):
Chromosome 18 (position 17254314)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 17606080 |
| GRCz11 | 18 | 17595146 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCGAATGAAGGAGGGTCTTGACATAACTCGAACAATCCAAGCTCAAGG[T/C]ACAGAAACTCCCATTCTACAATTTGTTTACRTTTTTTAAWGTAGTTAATT
Long Flanking Sequence:
CATTTAAAATGGTTAAACAATCGGAAGATAAAGTCCTTCTACCACACCGTAGTGGCTGATGATCTTCGTACCGGCGTACAGATGTTGCTGCAGGTCACCCATGCCCCATAACGCACTACACTCATACTCCAACCTCCAACCTTACTTTACTTTTTACCTTCTGATAAAGCTGCATCACCAAAACCAATCTGGTAAAGTCTGTTTATGACGTTTTTATTATAGAGTACGGGTTTGGGTCGGATGAAGCCTAATGTCTTAGTGATGGGATATAAAAAGAACTGGCGTAAAGTTCAACCAGGCATTATTGAAAACTACGTTGGAATTTTGCAGTATGTATCCCACATAATTTCTTGTTCCTTCAATGTTCAGTTCTGGTTTTCAAAGTCAAGGTTTGTGATCGTTCCATATATTTTCAGTGATGCATTTGACCTGCAATATGGTGTTTGTGTTCTTCGAATGAAGGAGGGTCTTGACATAACTCGAACAATCCAAGCTCAAGG[T/C]ACAGAAACTCCCATTCTACAATTTGTTTACGTTTTTTAAAGTAGTTAATTGCTTATTTTGAAATTTCTTTTGTGCTGTAGTAAATCTAGGATTTGAAACATCTACTGAACAAGGACTTGACACAAACTCAACAGCTCCTACATCACCCACAATTGAAGCATCATGTGTGTATTGAAAGTCTTTAAAAAAAATTTAAAACTATTATTAATTACTCACCCTTCGATTCTCGTTCATCTTTAGATCACAATTTATGATATTTAGATGAAATTTGAGAGCTCCCTCATCTTCCATAGACAGTAACAATCCTGAGATGTTCAAAGTCCAGAAAGCAAAAAAACTTTCAGAACATTCCACGTGACTTCAGTATAGATCAACGCTGAAATGTCAAAATTAATATTCTCAATATCAATATCATAGGTACTTACAAAATATTGTAAATAAGTATTTAATAATTAAAGAGAGCTTTTAAAAAATATTCACATTGTATGTTCAGAGGTGTG
Associated Phenotype:
Not determined