si:ch211-132b12.2

Ensembl ID:
ENSDARG00000094946
ZFIN ID:
ZDB-GENE-050420-178
Description:
hypothetical protein LOC571877 [Source:RefSeq peptide;Acc:NP_001038688]
Human Orthologues:
SLC6A11, SLC6A12, SLC6A13
Human Descriptions:
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 [Source:HGNC Symbol;
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 [Source:HGNC Symbol;Acc:1104
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 [Source:HGNC Symbol;Acc:1104
Mouse Orthologues:
Slc6a11, Slc6a12, Slc6a13
Mouse Descriptions:
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 Gene [Source:MGI Sym
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 Gene [Source:MGI Symbol;Acc:
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 Gene [Source:MGI Symbol;Acc:

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa43159 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa43159
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000147003 Nonsense 515 582 13 14
Genomic Location (Zv9):
Chromosome 18 (position 38879907)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 40592624
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTTTTAACCGCTGGTATGTGTACCCGGACTGGGCATATGTACTTGGCTG[G/A]TTGCTGGCTCTGTCCTCCATTCTACTGGTGCCTGGATGGGCGCTGGGACG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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