ZMP
LOC100003376
Ensembl ID:
Human Orthologue:
SLC7A3
Human Description:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 [Source:HGNC Symbol;A
Mouse Orthologues:
AU018091, Slc7a3
Mouse Descriptions:
expressed sequence AU018091 Gene [Source:MGI Symbol;Acc:MGI:2142124]
solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Gene [Source:MGI Symb
solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Gene [Source:MGI Symb
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa6349 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa22503 | Essential Splice Site | Available for shipment | Available now |
sa16407 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa6349
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000087918 | Nonsense | 171 | 642 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 14 (position 31758678)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 30548735 |
GRCz11 | 14 | 30889049 |
KASP Assay ID:
554-4657.1 (used for ordering genotyping assays)
KASP Sequence:
AAATGTGTTGGCAAAATATCCAGATGTGTTTGCCCTGATCCTAGTCATGT[T/A]GCTCACTGGTGAGAACCCTTTTGTTTCTGTTTAAGACCCTGTTTACAACT
Long Flanking Sequence:
CACAAAATAATCGATAGAGTATAACATGAAATGATTTGTCTATACAATATATATTGTCATATCGCACAGCTCTACATTTAAGTGTTGTTTAGGCTAAAAGGACTTTTTCCCTTTTGAATCCGAATATACTCATTAATCATCTCCCAAGTGTTAATTCCGAATGCCAAGACCAATTATATCTGATCACAAATGAGCTGAAGTGGTTTTGAAATGGTTTGAAGTGTTTACTCCTCTGGTCTAAGGGGCTTTGGAGTGTCTGCTTAAGTTTAACACAACAACTGGATGTTCTGAAGTCTTTTGCATCTGCTAATAGTGTCATATGATATTTTTTTTCTCATTTTTTAAAGGCACAGCTAGTGTGGCACGAGCTTGGAGCGCCACTTTCGACAGCCTGTTGGCACAAAAGATCTCCACTTTCTTCAAAGCCTTCATGTCCTTTCCAGACACTCAAAATGTGTTGGCAAAATATCCAGATGTGTTTGCCCTGATCCTAGTCATGT[T/A]GCTCACTGGTGAGAACCCTTTTGTTTCTGTTTAAGACCCTGTTTACAACTCTTATCGAGATTTAATTTTCAGCAGTCCGATCACAATTTGATGACGGGTAGTTGGGGGCCAAATGTTTTGAATTTGTTCATTTGTTCATCAAAGGCATTTAGAGAAAGTGCATTTCACCAGATTACTTTTGTAGTGTAGACTCTTATCGGATTGAATAAATTGAAACCGCAACTTAAGACCACCGACTCTGAGCCTCTGATCTCATCCTGAAACATTAGGGGACGATTCGCTGAAAACTAAACCCACAGTATTCTGTGTAGTTTTGCGGCTGAAGCTAAAGCTGCAGCTCCCAGAATTGCTTCGCATGGTCTCCTTTTGCATTCGTATGTTATTTTTGTATGTTTATTTCATGATATTACATCAGAAAAAGTCAGTGCACATGAACCCTACCCTAAAAAAGTTGTGGAAAATGGTTAATAGTGTCTAGCTCATTCATAGCAGACATAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22503
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000087918 | Essential Splice Site | 392 | 642 | 6 | 11 |
Genomic Location (Zv9):
Chromosome 14 (position 31754887)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 30544944 |
GRCz11 | 14 | 30885258 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACCAAAACTCCTGCCCTGGCAACACTTGTGTCTGGTATTGTAGCAGG[T/G]AAGACTGCACTATTATTAATTTGTTCATGCAATTAATGTCAAGAGATGAT
Long Flanking Sequence:
GATTTGAAACAAATTTAAGTAAAGAGCCGTTAAATTTTTTTAAAGCAAGAGTGGTAAAGCAAACACAGCGCCCCTCAGTTCAAAACATGTATTGCGATTCATTCAACATTTCAACCAGGTTGAACCATCACATATTTGAATCGATTTTCAACCGTCTCACCGTGAATCGTTACATCCCTAATCAGCAGTAACATCTACACTTATACTTGTATTATATTATATGAATTTTACTTCATTATTAAACTGAAAATGTTATTGATTACAGCTAAACAATGACACTCTTGTATTTCCACAACTGCTTTATTGATCTTAATCATATAAAGTGCTGAAAATAAGGGTCTCTTTTTGTTGTTTTTCAGCTTGCTGGGCTCCATGTTCCCTATGCCTCGTGTGATTTATGCCATGGCTGAAGATGGTCTGCTTTTTCGATTTCTCTCTCGGATGCATAAGAAAACCAAAACTCCTGCCCTGGCAACACTTGTGTCTGGTATTGTAGCAGG[T/G]AAGACTGCACTATTATTAATTTGTTCATGCAATTAATGTCAAGAGATGATTATTTTAATTAAAATTCTCCTTCGCTGTAGCTCTGATGGCCTTCCTGTTTGATCTCGATGCTTTGGTAGACTTGATGTCGATTGGGACCCTGCTGGCATACACTCTGGTGGCTGTGTGTGTTCTTATTCTTCGGTGTGTGTATATGTACAGTACTGTCCTTTTTAAAAGTTTGGGCTAGAATAGAATATACCCTCTTTTTTGGCACCAATTGCCTGGTGGTCAGTGTGTCGATAAATAGCTCAACTGTCAAGTTTAAGTCTTTCAGTTTTCCAGATCACAGGTCTCCACTTCAAAAGCAAAATATCTTAAATGGATCTATAAAAGAATCGACTCTCTTTGTAGAGTGTTAGTTTGCTGCTGAATCTGTATTTGTAGAATAGCTTTGCCAAATTTTATGACATTCACCTCTAGAGATTTATTATTTTTTATTTATCTTTTTTATTTATTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16407
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000087918 | Essential Splice Site | 503 | 642 | 8 | 11 |
Genomic Location (Zv9):
Chromosome 14 (position 31752938)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 30542995 |
GRCz11 | 14 | 30883309 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCCACCAAGATTTCAGGCATCATTGTTTACTCTGCGTGYGGCACCATATG[T/A]AAGCATTTCATTAAATCAGTCTTTTTCTGAAACCTAGAATTAAAATTGAG
Long Flanking Sequence:
ACAATAGGGTTAGCAAAATAGTCTTATGTCAAAATGAAAAACAAAATTATTTTGCTTACCCCATTGGCAGATTATTTTTCTTGTTTTAGGGAAAGTCTTAGCATTTTATTTCTCAAAACAAGAATTTTTCTTTTGCTAACTTGCTAATATTTACTTCACAATTGTACTATTATTTTTAACAAATAAGTGCAGTCTTATTACTTATGATTTCCTTAAAAACATGAATGTTTTTGTTTCAAAATTTAAGATTATTATTGTTTAATCCACAGGTATCAGCCGAGCAGGCTTGGGTCCAGCGGTGCAGATGTGAAGCCTGTGGAGCTCCAGAGGCTGGAGGCTAAAGCAGTCATGGATGTGGACAGTGGAGATGAGTACAGTCAGGATATGGAGACGATACCTCTTAAAAAAAGGTTTTCCATAAGGATGCTTGTGCAGCCCATATGTGATGTACCCACCAAGATTTCAGGCATCATTGTTTACTCTGCGTGCGGCACCATATG[T/A]AAGCATTTCATTAAATCAGTCTTTTTCTGAAACCTAGAATTAAAATTGAGACTTTAAAACGTTGTTCAGAAAGTGAAAAGAGTAATGGTTCTCTTCTGCTCCTCAGCCGTGTTGTTCACGCTGCTGTGTTTGGTGCTGTCGGTGTGCTTGGAGCAGGTGGCTATGGGTCACCCTCTTTTTATCTGTTTGGTTGTTCTCCTGTCGGTTCTGTCCACTGTCTGCATCGTCGTCATTTGGCGCCAGCCCCAGAGCAAAGAGGCTCTCACTTTCAAGGTACAGACTTAAATGTGGAGCTTTGTAAAATCAACAATCTTTAGGTGGTTATAGTAACCTCTCTCTGCATTTTGTAGGTCCCTTTGCTTCCCATTCTCCCATTGATCAGCATCTTTGTAAATATTTACCTCATGATGCAAATGAGTGGAGCGACGTGGATTCGTTTTGCAGTATGGATGGCAATTGGTGAGTTAATGCTAGTGGTGTGACGGATCACAAATCTCACA
Associated Phenotype:
Not determined