ZMP
slc23a1
Ensembl ID:
ZFIN ID:
Description:
solute carrier family 23 member 1 [Source:RefSeq peptide;Acc:NP_001166970]
Human Orthologue:
SLC23A1
Human Description:
solute carrier family 23 (nucleobase transporters), member 1 [Source:HGNC Symbol;Acc:10974]
Mouse Orthologue:
Slc23a1
Mouse Description:
solute carrier family 23 (nucleobase transporters), member 1 Gene [Source:MGI Symbol;Acc:MGI:1341903
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa30723 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa23969 | Nonsense | Available for shipment | Available now |
sa16168 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa30723
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 |
---|---|---|---|---|---|
ENSDART00000014223 | Nonsense | 73 | 635 | 2 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 28849154)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30068398 |
GRCz11 | 21 | 30105093 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGCATCTTTTGATATGATCTACAGGATCGAGGACGTCCCGCCTTGGTA[T/A]CTGTGTATCCTGCTGGGACTGCAGGTTTACACTTATTTTCTCTTCTTCTC
Long Flanking Sequence:
ACCCCAAACATACTTCCTCTTTCTGCAACCCTTCTCTGCATACCAGAACTGAACAATTACGTGCATCTTTAATATATTTCACAACTTCTACAAGCATCATGACAACTTGTGACATGTATTGACCTTGAATTAAACAAAGGCCCCCACACTTATTCTGCTATTTCCATCTTGTCAGCATGTTCCTTAAAAAGGTATCCAGCACAGTAAAAAAGAGGAAGTGTGTCTGGTCAATATGTGATCTCTTACAATAGAAAAAGATTGATTATTCTGTTGTTAGTCTAAACATTCTTCTAATAAAAATAAAGACACAAAAGTAATAAAAAAAAATTCCTTTTTTCCAACAATGTTCATCAGCTCACACATTCAGATGGAGCTGTGCCAGCGGGTGGTCCAGAAGTACAAGAGATGCCATCTGACAATCCCAAGACGTCCGATGGGCATCAGAATCATTCAGCATCTTTTGATATGATCTACAGGATCGAGGACGTCCCGCCTTGGTA[T/A]CTGTGTATCCTGCTGGGACTGCAGGTTTACACTTATTTTCTCTTCTTCTCTTATCTTCTAATCGAACTCACCCAACACTGTCATCTCTTTAAAACCCTCATATATGTGTGTATATTTTGGCATCTCCAGCACTACCTGACATGCTTCAGTGGGACCATTGCAGTTCCGTTCCTGCTGGCCGAGTCTATGTGTGTCGGGCAGGACCAGTACACCGTCAGCCAGCTAGTGGGCACCATATTCACCTGTGTGGGAATCACTACACTCATACAGACTACATTTGGTGTCAGGTGAGTTATCTAGTGTGAGCTTAGTGAGTGAGGAAATACGCTTACCAGGGTTTAATAGGGATGCCTGTTCAATAGCTATGAAACTTAATCATCTAATTACCCTCTTATAAAGCAATAATTCAGGCATGTAGATGTGGTCAAGATGATCTGCTGAAGGTCAATCTGAGCGTCAGAACAGATAATCAAGACGATTTAAGTAATTTTGAGTGTGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23969
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000014223 | Nonsense | 281 | 635 | 7 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 28842112)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30061356 |
GRCz11 | 21 | 30098051 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCCTCTCCCAAGCTTTTCTAAAGAAAAAGGCTGTCATATAACCCACGTC[C/T]AAATTTTCAAGATGTTTCCGGTATGAACCAATATTCAACGCTCAGATCTA
Long Flanking Sequence:
ACACCCAGAGGAAACCCACACGAACACGGGGCACTTAGATTACTGTCCTCAATCTCTTATACCTGCTTCAAACTTCAGGCTAGATTTTCTCTAGCCAACTTTAAATTTGTCTTCAAAGGTTATCATTTAGTTATTACTTTATTTTTATAAAACACACACAAAAATAAATAAAACAAAAATAAGAATTTAAAGTGTAAACCAAATTTACCAAAATAAATTTGCTAAATAAATCATTTGTTAAATAGAGATTTAAAAATCCTCTTTTCATTTTGGGCGAACTGTATTGAATCCAATTGGATCATTTTGACCTGCAACACAATATTCATACACAGAATTCATACATGAGATGATGGTAATGTATTTCGTGACCATGTTTAACATATTTTTTGTTTAATTCTAGGTGCATCTTTCTTATTGTTTTGTTTGCCCAGTATTTACGGAACTGGGCTTGCCCTCTCCCAAGCTTTTCTAAAGAAAAAGGCTGTCATATAACCCACGTC[C/T]AAATTTTCAAGATGTTTCCGGTATGAACCAATATTCAACGCTCAGATCTAAATTACACCAACATGCATTTTGCCACAAAGTGCCAAGCAATACTGTAAATCAAACTAACAACACACACACACAGTACTTATCACTATTAATTAAACTACCAGATAACCCGCAGAACAAAGTCCCCATTACCACATGTGGTGCTTGTTATCAATGCGTTTACAGATTAAATTGCACTTTTTTTTCCCTTAGTAACTGATTATCCTGATTCCAGTAGATCATCATGGCTATTATGGTGGTTTGGCTGGTTTGCTACATCCTCACCCTGACCAATGTCCTGCCGGATGACCCAGATCTGTACGGCTACAAGGCTCGCACTGACGCCCGAGGCGATATTATGACCCAAGCACCTTGGTTTCGTTTCCCCTATCCATGTAAGAACACACACCCATGACCTATAACAACTTGTTTATCAGGAAATGTCACACACGACTAATATCTAATCTAAGACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16168
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000014223 | Essential Splice Site | 547 | 635 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 28836325)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30055569 |
GRCz11 | 21 | 30092264 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATGTTTGTTGGGGGATTCTTAGCATTTGTACTWGACAACACAATCCCAG[G/A]TATAACCGTGGACTTWTYCTTCAGATAATAAGMCAAYAAAGACAATTCAT
Long Flanking Sequence:
ATCGTAGTTTTCTTCTACAAAATAAACATTTGACATCATTTTTTCATTAAATTAATACAAAAGAGACTTTGAGAAGCATAAAATAAAATGTTACTCAACCCAAACGTCAGACGTTATTGGCAGTGCACATCTATTTATTGAAGTTTAAACTTGTTTTTTTGTTTTGTTTTGCACACAGGTATGATCACAGCTGTCGGCCTCTCAAACCTACAGAGTGTCGATCTGAACTCCTCCAGAAATCTTTTCGTTCTGGGTTTCTCCATGTTTTCTGGCCTCATGCTACCGAATTACCTGGATGCTCATCCAGGGAGCATCAAAACAGGTTAACATGTCTTTCAACAAAAAATATAAGAGCAAGTCAAATCTGTCTATATGAACACAAACGTTCTGATTGATTTCAACAGGTGTGGCTGAGCTTGACCAAATCATCACAGTGCTCCTGACAACAGAGATGTTTGTTGGGGGATTCTTAGCATTTGTACTTGACAACACAATCCCAG[G/A]TATAACCGTGGACTTATTCTTCAGATAATAAGCCAACAAAGACAATTCATGCTTGCCATTTTGTACGCAGGCACCAGAAAAGAGCGAGGCCTGGTTGAATGGGTGGATGAGGGTTCTTCAGGAGCAGGAACAGTAAAATCAGACACATATAACTTTCCGATTGGGATGGGACTGGTCCGGAAGACAGGCTGTCTGCGCTACCTGCCTATCTGTCCCACTTTCCGGGGCTTTAAGTCATCATGCCGCAAGAACAAGGAAGAGGAGGATGAGGAGGACATAAAAATAAAGGAAGGTGTAACTGATGCTCCCATTGAAATGGTCTGCACCAAAATTTAGGCGTATTTTTATAGTTTGACAAGGTTTAGAATAGTGTACATTGTTTGGTTGGAATGTTTTCTCAGCTGATGTACAAAATCCATTCAGTTTTGCTTTAAAGAATGGGTGGAATTTATTTATAGTAAAACTGAAATGACAGTTTGAGTACAATGAGTCTCTATAAT
Associated Phenotype:
Not determined