ZMP

zgc:103663

Ensembl ID:

ENSDARG00000039647

ZFIN IDs:

ZDB-GENE-041114-57, ZDB-GENE-041114-57

Description:

sodium- and chloride-dependent GABA transporter 1 [Source:RefSeq peptide;Acc:NP_001007363]

Human Orthologue:

SLC6A1

Human Description:

solute carrier family 6 (neurotransmitter transporter, GABA), member 1 [Source:HGNC Symbol;Acc:11042

Mouse Orthologue:

Slc6a1

Mouse Description:

solute carrier family 6 (neurotransmitter transporter, GABA), member 1 Gene [Source:MGI Symbol;Acc:M

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa27704	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa41754	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa27704

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000017551	Essential Splice Site	474	600	11	14
ENSDART00000057952	Essential Splice Site	474	600	12	15

Genomic Location (Zv9):

Chromosome 11 (position 998393)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	984656
GRCz11	11	1011244

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTGCTGTTCCTCGTCTTCTTTGAGTGCGTCTCCATATCCTGGTTCTACG[G/T]TAAATGTCCTTAAATAAAATAACTATTTAATTAATTTGAATGCAGATTAT

Long Flanking Sequence:

TTTAAATACATGACAAATATATAAATAAATAATAAATAAATAATCTCTTTCCCACATTTTGCGGAATGTCATATCATAGATGTTTCATTCAGAAAGATGGGGAAAAGGGTTTGGGGAGAGTTATTACAACCTAACAGACTCCTCCTCCTCACCATTTCTGTTTGATGTTAAAGGGGGGTGTGGTTATGTATGTTAGCCACACCCATTACCTCAGACATACCAAATTTGCAGATTTACATTAAAGATTACTAGAGCAAACTATTGTTTTGTTCTTAATGACATGCACAGATAAATTGTTCAGCATAAAACTAGCAATGTGAGCTAAATCAAAATAAGGATCAATATGGTGAGTTTTGAATTCATCTGTACTTTAATCGTGTTTATCTTGTGTGGACAGGGCGGTCTGTATGTGTTCAAACTCTTCGACTATTACTCTGCCAGCGGGATGTGTCTGCTGTTCCTCGTCTTCTTTGAGTGCGTCTCCATATCCTGGTTCTACG[G/T]TAAATGTCCTTAAATAAAATAACTATTTAATTAATTTGAATGCAGATTATGCAATTACATATGTGTCATGCAAATTTCTATATGGATTTCACATATTGTTAGATAATTAAAAAGTGGTAGTTTAGTTTTTTTTTCAACTATTGGAATTACAAAAATGCACATATATAAAAATATGGCTAATATATTTGAACATGTGTGTTTTTATTTACGACCATATGAATGTGCCAAAAGTTTTGAAAATGCCTTTTGTATGCAGATGGTGAATTTTCTTACAAGTATTCTGTTAAATGACCATATGTGCAAATTACATACAGTATATGACAGACAAGTTTATATTTATATATCACATGTACAACAAATATATTTTTAATTATTGCAAAAATGATAGTGTAGATTTTTTTTAAACCATTGAAATTGAAAATATGCACATATGTTCACATATATTAGCTCTAATTTCATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41754

Status:

Mutation detected in F1 DNA
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
ENSDART00000017551	Nonsense	496	600	12	14
ENSDART00000057952	Nonsense	496	600	13	15

Genomic Location (Zv9):

Chromosome 11 (position 995454)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	981717
GRCz11	11	1008305

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTATGGCAACCTGGAGGAGATGATCGGATACAAGCCGTGCATTTGGTGG[A/T]AGCTGTGCTGGGTGGTGTTCACTCCGCTGATCGTGGCGGTAGGTGCATTT

Long Flanking Sequence:

AGTGCTTTTTTCAGCTCAAACTGAAACACGTGCACTGTAGAGACACTAATTTTACATCTTAGGTTAAATAGGTCCCCTTTAAATCCACATGGTGAAGAATATAGACGTAATCATTTTTATTTTTGTGTGAACTGTCCCTTTAATAATTTGTTTGCATTAATTTCCGCTCACAAGCAGGCATAATGCGTAACGCATGCTAATGATTATCAGAGATCTTCATAATTCATGCTAATCTCGGTGCCAGACTCATTTCCACACTCAGATGATTTGACTGAATGTGAACCTGCAGAATCTTAATTGTTGTGCGTGGCAGGCCTGATTATGCAAACGACTGGGCGATCCTCCATTTGCATTTATGAAGAGGCTTCACAGACCTCCAGCCGGCTGTAATACACACGCAGTACTGCATTGACACTCTTTATATTTGTGTTTTTGCAGGTGTCAATAAATTCTATGGCAACCTGGAGGAGATGATCGGATACAAGCCGTGCATTTGGTGG[A/T]AGCTGTGCTGGGTGGTGTTCACTCCGCTGATCGTGGCGGTAGGTGCATTTATTGCGTGTTTTTTTTAAATATTTAACAAAAACAATGTGCATACAGTAGGTTTCACAATAAACATGAGTAAACGAAACAAAAGCACAAACTGCACTGCTTGTCTTATTTTTAATAGTGGTGTACGTTGCAAAGAACTTCATATACACTGCAAAAAAATGCTTTTCTTACATTTTTTTTTCTTATTTCTAATCCAAATGTCTAGAAATTCTTGAATTAAGAAGAATTTTCTAGACAAGCAAAACATATTGTCTTGTTTTAATAAATAATATGCCAAATTGAAGTTAGTTTTTCCTTAAAACAAGCAAAATAATCTTATGTCAACAGAAAAACAAGACTATATTTCTTACCCCATTTGCAGATTATTTTGCTTGTTTTAAGGAAAAACTGAATGAACATTGGCATATTGTTTATAAAAAAAATGTAAGAACTTTTCGATATATCTTGGACTA

Associated Phenotype:

Not determined