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