Busch Lab

ZMP

NP_001002080.1

Ensembl ID:
ENSDARG00000010640
Description:
solute carrier family 12 member 2 isoform 1 [Source:RefSeq peptide;Acc:NP_001002080]
Human Orthologue:
SLC12A2
Human Description:
solute carrier family 12 (sodium/potassium/chloride transporters), member 2 [Source:HGNC Symbol;Acc:
Mouse Orthologue:
Slc12a2
Mouse Description:
solute carrier family 12, member 2 Gene [Source:MGI Symbol;Acc:MGI:101924]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa16350 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16350
Status:
Available for shipment
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Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018425 Nonsense 577 865 15 23
ENSDART00000127372 Nonsense 577 849 15 22
Genomic Location (Zv9):
Chromosome 10 (position 16869622)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16366317
GRCz11 10 16289128
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
NNNNNNNNAGTGATGCGTTTGATTTTCAGTATGGTGTTGTCATTCTCAGACTG[C/T]GAGAGGGACTTGATATTTCTCACATTCAAGGTCAAGGTAYAGTCCTGWAC
Long Flanking Sequence:
TTATCAAGTGCTGTTCAGGTGTGTTTGATCAGGGTTTGAGCTGAACTTTGCTGGAAGGTCGATCTCCAGGAGCAGGGTTGAGCACCACTGATCTAAAAGATAAGCTGTTGCAACAGTAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTCTAGACATTTAAAAAAAAACATTTAAGCCATGAATAATTTGTTCTAATCTAGTGTTTTTAATAGCATTGCTTTTAACAGAAAAATATATACTGATGTTTATTCTCAATTGTAGAAAATACAACAATTTAGAAACTAATATTAACCACATAAATTATTTTTACAAAGTTATATAGCTTTATGCTAATATACACCTTTTACATGTTTGTGTAAATTGCAACTAATGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTAGTGATGCGTTTGATTTTCAGTATGGTGTTGTCATTCTCAGACTG[C/T]GAGAGGGACTTGATATTTCTCACATTCAAGGTCAAGGTATAGTCCTGTACATTTAACTTCAGCATGAGCACGTAACTTGTAAAAAATAAAGAGTTTAACAAATGCTTCTGCTTAGTGCAGCCCTGCAGCCTAGCTTCAGGTGAAAATCTTTGTCTCAGCAGGTCGAAATTTTACTCCGTTTGTGTGAGAGAGAATTTAGAGCAAAGTATGTGAACTCTTAAGCCTTTTTAGAGGGAAAACATGATGCTCATAGCTGGACATGCGTGATTTCTTCAATGTTTAGGCAGATCTAATCGTCCATGTAATTAGTTCATTAAGACTTGCTTTTCATGATAGATCTAAATTTGCCTTGACCTCAAAGTAATGCTTAACTTTCCATTGTCTCTAAAGATGATTCTTCAGGTATGAAGGATGTGGTGGTTTCAGTGGACATAAGCAAAGACTCGGATGGAGACTCATCCAAACCCTCCTCCAAGGCCACCAGTGTTCAGAACAGCCCA
Associated Phenotype:
Not determined