ZMP
sptlc1
Ensembl ID:
ZFIN ID:
Description:
serine palmitoyltransferase 1 [Source:RefSeq peptide;Acc:NP_001018307]
Human Orthologue:
SPTLC1
Human Description:
serine palmitoyltransferase, long chain base subunit 1 [Source:HGNC Symbol;Acc:11277]
Mouse Orthologue:
Sptlc1
Mouse Description:
serine palmitoyltransferase, long chain base subunit 1 Gene [Source:MGI Symbol;Acc:MGI:1099431]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa34823 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa12144 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa34823
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000063120 | Essential Splice Site | 117 | 472 | 4 | 15 |
ENSDART00000133927 | Essential Splice Site | 129 | 484 | 4 | 15 |
Genomic Location (Zv9):
Chromosome 10 (position 5243509)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 5239803 |
GRCz11 | 10 | 5240107 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTGCCTCGTTTAACTTCTTGGGTCTGCTTGACAATGAGCGCGTGAAGG[T/C]TTGTAGCCGCTTTAAGGGCTTTTCCATTCCTCACATTTACATCCATCACT
Long Flanking Sequence:
AATCATGTTTTATCAAGTTATGATGGTAAGGAATTACTGTTTTATACAATAACGTTTTCTATGATCTAAACAAACCCGGAATGTGACGACTATACACATCTATTGAATGCATTATAAGAAATAATCAATGTCTTTCAATACTTACATTTATTATAATAACACCAAATCTGTGTGTTTCAGGAGAAAGAGGAGTTAATTGAAGAGTGGCAACCCGAACCGCTGGTCTCCCCCGTATCTAAAGACCACCCTTCCCTCAATTATGATGTGGTCACAGGGTACGTCTGCTACACATTTACTGTATACAGATTTCTGCATAAACCTCTTATTTAGAGTCAACATGTCTCAAGCGGAATAACAACGGCTGTGTAAATGATCCTGACTGAAGGCCGTGTGTTTCTTTTACAGGCCTCCAAGCCACAAAATCATTGTAAATGGCAAAGAGTGCATTAACTTTGCCTCGTTTAACTTCTTGGGTCTGCTTGACAATGAGCGCGTGAAGG[T/C]TTGTAGCCGCTTTAAGGGCTTTTCCATTCCTCACATTTACATCCATCACTGCGGCCGCTGATTATAACGTGCCGCTTGCTCATTTATGATGATTACAGCTTGATGAATGAAAACATCACTGCTGCTGGATTTGATTTGGAAGGCATGACTTAAATGGCACTTAAACATAGCTTTAGTGCACTGAAAGAATGACGTTTGCTGCTTGTTCAAGCTACTTATTTAAACTGAGCTGAAACAACACAATTCTGGAGGTTTTTTGGGCGACAATTGAATTGTTTTAAGTTTAATCTACTTAAATTTGTAAAAACTATTAAGTTAACTTAATTCCTTTATGCTGTCCCAACACAAATCGGCAGCATTTTTACTGACTTCTAAAGGACTTTGAAAGAAGTCTCTTGTTATACGAAGGAAAAATTTAGTTAAATTCAGCAAGATGAAACTGTAACAATTTAAAGATGTTTCAAAGAAGTCTGCAGTGCTCATCAAAGCTAGAGTTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12144
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 |
---|---|---|---|---|---|
ENSDART00000063120 | Nonsense | 451 | 472 | 15 | 15 |
ENSDART00000133927 | Nonsense | 463 | 484 | 15 | 15 |
Genomic Location (Zv9):
Chromosome 10 (position 5267840)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 5264134 |
GRCz11 | 10 | 5264438 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAATGTTGAATATTTTGTCCNTCAGCATTCGAGTAGTTGTGACCGTCGAA[C/T]AAACGCARGAGGAAATCGARAAGGCAGCACAGTGYATTCGAGAAGCAGCT
Long Flanking Sequence:
CGACCCCTGGTCTATAGGTAGTGCAATCTACACAACAGTAATTGCAGTGTGTGGGTGAGGGGGCAGTGTATCATGTTGTGGTTCTGTAACGGCTGGTGTTGGTTGCTGCATGGTTAAAAAAAAAGTATGACTGTTTGAGTAACTAGGTGAATTTCGACAAATAGATTATTTTAAATAAATTAAAAATAAATAATCTAATATTAATCTAATATTTTGGGCTTTTTTGTGCGTTTGGGCGGGTTTTAAATCACTTTTGGGCTGGAAAAAGTCAGCTATATCTGGCAACACTGATACTAAAACAAATGAATCTCTCCTACAGAGTTTGGACAGACAGGTCGCACTAACGTTGGCTCGCTACCTGGACAAAGAAGAGCGCTTTCTTCCACCGCCAAGGTGATCAGCTGGAAGTCATTTGCTAAAATTGATGAAAACCGTCTTGACCTGTTATTGAAATGTTGAATATTTTGTCCTTCAGCATTCGAGTAGTTGTGACCGTCGAA[C/T]AAACGCAGGAGGAAATCGAGAAGGCAGCACAGTGTATTCGAGAAGCAGCTTTACATGTTCTGAAATGAAGACCAGTCGCTTCAACATCCATCACACACGCACACCGTAAAGCTTTAAAAGTGTCATCACTGACCGGAGGAAGGAAAGCGAGAGCCTGGCAGGTTCTGTGACCTTTGACCTCAGAGAAATACACTCGGATTGTTTGTATATTTATGTTTGGTGTACAGAAAATGTGGATTATTTTAGTAGTCTTCATTTCACATTGAAATAAATGCAATTGACTCCCGACACTCTCATGTGCAGCATCAAACCCGTTTATGTTCTGTTCAAAGCCTTGAAAAACCTTGAAATCTTTACTAATCAATGGTAATTATAGCTTTTATATACACAAGTATCTTTTTATGTACACTAGTATTTACATTCTTTTGTAACCTTTGACCAAAGAGATGCTTCTTTACCACATTTCAGAATATTTATGCCTTGAATGTGATTTTTTTTTT
Associated Phenotype:
Not determined