ZMP
LOC100150452
Ensembl ID:
Human Orthologues:
AC133561.1, SLC6A8
Human Description:
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [Source:HGNC Symbol;Acc:1
Mouse Orthologue:
Slc6a8
Mouse Description:
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Gene [Source:MGI Symbol;A
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24253 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24253
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092131 | Essential Splice Site | 552 | 652 | 12 | 14 |
Genomic Location (Zv9):
Chromosome 23 (position 6949165)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 6903702 |
GRCz11 | 23 | 6837674 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCGTATATGAAGTGGTGCTGGTCCTACATCACGCCGGTAGTGTGTATG[G/T]TGAGGTTTCCATAATAATACTCTAAACACGAGGTTTCATATTAAGTAGCC
Long Flanking Sequence:
CGCAAAAAAGGATTACTAAATCCGAATCAATTTTATCAGCATTGAACCTTTTGAAAAACAAGCCCTAAAGTGTCTCAGCTAGAAAACAAAAACGTTTTCAAACGCCACCAACTGGACATTTATAAAACAGCACCTGGCGTTTTAAAGCTATACATGGCTTAAAATGCTTTGGTGGACATGTGTTAATGTAACATTTATAGCTAGGTATATAGCATATTGTTAGTATTTCCTACGTGCATGAGTTATATTGCAGCCAAGCCTTATAAGGGAGTTCATAACTGACTGAATTGTCAGGAAGGTCTATTTTAATACTAAATTTACTCTTATATTTAAGAAAGTTTCATGAATTAGGCCTTTGTGTTACCAAGTCCTCATCTGCTTCTCTGACTCTGTCTAAAGGTGCTGATCGCTTCATGGATGATGTGGCCTGTATGATCGGCTATCGTCCTCTGCCGTATATGAAGTGGTGCTGGTCCTACATCACGCCGGTAGTGTGTATG[G/T]TGAGGTTTCCATAATAATACTCTAAACACGAGGTTTCATATTAAGTAGCCTAAAGGGTTTTACAGATGTGTTTGTGTGTTCGGCAGGGTGTGTTCTTGTTTCATGTGGTCAACTACAAGAGGTTAGTGTATAATGCGGTGTATGTGTACCCGTGGTGGGGTGAGGCACTGGGCTGGTTTCTCGCTCTCTCATCCATGCTCTGTATTCCTCTCACCGTCCTCTACAAACTGCTGCACTGCAAAGGCTCACTCATGGAGGTAGGACTATCAGTGTGTGTGTGCATTGCTAATTTTCTTGTCACGCAAAAAAAAAAAAAACTTGTGTACATGACACTGATTTGAAAACTAAAAACAGAAAACTTAAGCGATGTGCTTTTATATAATGTAATCATACCAGGGGTCGCATAAAAATCAAAAGGCTGATGGCTTTTTATTAGCTTTTTTATGTAACTATATATTTTTTCTTCTGTAGGTTAATTCTACTAGTTTAATAAAATGAAT
Associated Phenotype:
Not determined