ZMP
si:dkey-56p7.8
Ensembl ID:
ZFIN ID:
Description:
carnitine palmitoyltransferase 1A [Source:RefSeq peptide;Acc:NP_001038319]
Human Orthologue:
CPT1A
Human Description:
carnitine palmitoyltransferase 1A (liver) [Source:HGNC Symbol;Acc:2328]
Mouse Orthologue:
Cpt1a
Mouse Description:
carnitine palmitoyltransferase 1a, liver Gene [Source:MGI Symbol;Acc:MGI:1098296]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16862 | Nonsense | Available for shipment | Available now |
| sa34169 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa16862
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083431 | Nonsense | 55 | 777 | 2 | 18 |
| ENSDART00000145375 | Nonsense | 55 | 774 | 2 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 50263691)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 48533927 |
| GRCz11 | 7 | 48806703 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTTTTCGATTGTTGCAKTTCTACAGAATGGCATTTTGAATGGGGTATA[T/A]CCAGGAAGCGCACCAGGGTTCGTGCTGGTGYTGGCAGGGTACCTTGGAAG
Long Flanking Sequence:
AGCAGGTAACTGAATATTAGCTTGGAGTTGTTATTTTATTAGTGAGTAAAAGGGCAGGCTATAGCTTATACAGAAGTCATTGGAGTCATAAGATTTGTCTAAATAAGATTTGTCCAAATAACGTGAAGTAGAAAGTTATATTTTGTATGTTTAAGTTGGTCACTTGTTGTATCCTTTACTGAAGAATTTTGTACGTTTGCAGATTTTTTGATTCAGTATGGCAGAAGCTCATCAGGCTGTGGCCTTTCAGTTCACCGTCGGCCCGGATGGCATTGACCTTCAGCTCAGCCATGAGGCTCTTCGGCAAGTCTATCTCTCAGGAATACACTCCTGGAAGAAGAAATTTATCCGATTTAAGGTACCCTGATGGTGTTTCTTACATGATTCTTCATTGAAAGTCTTCTCAAGACTAATTTGGTGTATTAAAACCGGTCTAGGAGATTTTACTGTTGTTTTTCGATTGTTGCATTTCTACAGAATGGCATTTTGAATGGGGTATA[T/A]CCAGGAAGCGCACCAGGGTTCGTGCTGGTGTTGGCAGGGTACCTTGGAAGGGCACAATATTTAAAAGTGGACCCATCCTTAGGCCTGCTCTTCAAACTTGGCAATTATGTCCCGATCAGGTAAGTGTGTTTCATATGTGGGACATTCTACCAGAAACGTACATTATCTTACCCTAAAATAAAAACGTAAATACAATAAATAAAAAGTATTTCATCACAAAATGTCTAAGATGACCTAATGGTTGATTTCTGTGAGTTGATCTGTAAAGGAATATGTCATTCATTTGGTTCTCAGATATTTGTTCTTTAATAAAAACACTTTACAAATTTACAAACCTTGTCATTGTCCTCAGCCCAATTGAACCTACAGCTTTAATACTTTTATTATGCTAAAAGCTGTTATTTAGAAGAAAAAAAAAACTGAAATAGGTTTAAGTTGTTATCGTTTACATCAATTGAATAAAAACATGAAATTGTAAAGACATTCTACAAATATATTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34169
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083431 | Essential Splice Site | 259 | 777 | 6 | 18 |
| ENSDART00000145375 | Essential Splice Site | 259 | 774 | 6 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 50268207)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 48538443 |
| GRCz11 | 7 | 48811219 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCTGAGAGGTCGTGGGCCAATCATGGTTAACAGCAACTATTATGTAATG[G/A]TAAATGGTGCTTGCCAGCTTCACATGTGTATGCAGCCAAAACGTGCAATA
Long Flanking Sequence:
ACCTATTAAGGAGTTTCTTTATTCTGTTGAACACATTAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAGAAAGCTGATAACCTGTAACCAATGACTTCCATTGTAGAAAAAACAAGTACTTTGGAAGTCAATGGTCATGTATTTCCGACTTTCTTTAAGCAATCTTCTTGTGTTCAACAGATAAAAGAAACTCAAACAGGTTTGCAACAAGTAAAGGAAGAGTAAATGATGACAGAGTTTTCATTTTAGTGTGAACAATCCGTTTGAAACAAATCTTACAAAATTGAAATTTTGAATGCAAGTGTAATTGTTGGGGATTTGTTTTATAACGGGAATGACTGTGAAGGTCTAAACCTTAATTTCATTTGAGTTTTTATTGCTGTATGTGTTTCAGGTCAGTGACTGGTGGGAAGAATATATCTACCTGAGAGGTCGTGGGCCAATCATGGTTAACAGCAACTATTATGTAATG[G/A]TAAATGGTGCTTGCCAGCTTCACATGTGTATGCAGCCAAAACGTGCAATAGAGTGCCTAGATATATTACAGTCACAAGATAAGCTTAGGTCACTGTGTTTTGGTCACAGAGTTCAGTTAACTCCCATTTTTGTTTATTCTCAATTTGATTATACATGCATTCTTGGCATCTAAAACCACTTGCCCTTTCCCCCACTTTTTGAACAGGACTTTCTTTACGCTTTTCCCACAAATATTCAAGCAGCAAGAGCAGGAAACGTCATTCATGCAATAATGCTGTACAGGAGGAAGCTGGACCGGGCTCAAATCAAACCGGTTAGACAATCTACCATATTTTCACTGCATCTTCACATCAACATAAATTGCTTTCATTTAATCAGCTAATAAATATACTTCTACTATGCCCAATTTTTAATGTTGTCAAACAACGTTTTCTATCTGAAATGACTTTAAAATTTATTTTAAAATGTAAATCCTAAAAAAATTGTAGCGTTTTTATCA
Associated Phenotype:
Not determined