ZMP
slc48a1b
Ensembl ID:
ZFIN ID:
Description:
Heme transporter hrg1-A [Source:UniProtKB/Swiss-Prot;Acc:Q7T3B2]
Human Orthologue:
SLC48A1
Human Description:
solute carrier family 48 (heme transporter), member 1 [Source:HGNC Symbol;Acc:26035]
Mouse Orthologue:
Slc48a1
Mouse Description:
solute carrier family 48 (heme transporter), member 1 Gene [Source:MGI Symbol;Acc:MGI:1914989]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40741 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa40742 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa20758 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa40741
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000029930 | Nonsense | 12 | 144 | 2 | 4 |
| ENSDART00000131347 | Nonsense | 12 | 107 | 1 | 2 |
| ENSDART00000143616 | Nonsense | 12 | 107 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 38827400)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 38899000 |
| GRCz11 | 6 | 38896536 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATCTGACGACAGGAATGGCGTTCAATAAGACGTATATTCGCGTGGGCTA[C/A]TCGTGTATGGGGATGCTGGTGGGCTTTTCGGCGTTTCTGGTGTGGAACAT
Long Flanking Sequence:
CACACTCATGCACATTCAAACATTTATAAAGTAAACATTAAAATGTAAAAGCAAAAAGAAGTAACTCACATGTTTGGAATAACTTGAGCGTGAGTAAATGACGGCCGCATATTTTCTCTTCCACACCCGCAGGCGTCGCTGTTCTCTGTCAAAAAGACGCATGATTTCACTTTTGCTCCTGAGCTGAACCTCTGCGAAGAGCAACAAACACCCCACACGACGCATTATGGAGCAGTAAATGACGGTAGATGTGGATTGATCGACTGAGGCGGACTCTCTCTTCTTTATAAAGCCCCAGTGAATGACATTTCTCCACTAGTGGCGATAACAACTACAGCTGGATTTCACCGCTGTCTCCAGGTCAAACGCGCGGATTCCCCACAACAACTATTTTTAGCATCTGGATAGTTCTTTGTTGTTTGAAGAGTATTTTCCTTGTTCATTCAGGTGGATCTGACGACAGGAATGGCGTTCAATAAGACGTATATTCGCGTGGGCTA[C/A]TCGTGTATGGGGATGCTGGTGGGCTTTTCGGCGTTTCTGGTGTGGAACATCGCTTACAAACAGCCGTGGACCGCCGCGATGGGAGGATTATCAGGTAAATTCCTTGGCTGTGTCTCAAGGTGAACTAACCAACTTAACATAGACAGCATTGGTGGGCATCACTGACCAACTCGGAAAGAGCCTGTGATGTGTTGTGTTGGCAAATCCCAATTTTAGGACAAAAATGTTAACATGGATTTGAATGTTTTGGTGTAGATTTTAAAGAAATAGTTCTCCATAAAAAGAAAATATAATCTTTCTTTAATTTCTTTGAACACAAAAGAAGATTTTTTCAAGAAAGCTGAAAATCTCTAACTAGAAAAACAAATACTATGGAAGTCAATAGTTACAGGTTTTCAGCATTCTTCAAAATATCTTCTTTTGTGGTTAACAGAGAAAATAATTCATAAAGGTTTTAAAGAAGTAAAAGATGATTTATTTATGACAACATTTTAATTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40742
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 |
|---|---|---|---|---|---|
| ENSDART00000029930 | Essential Splice Site | 43 | 144 | 2 | 4 |
| ENSDART00000131347 | Essential Splice Site | 43 | 107 | 1 | 2 |
| ENSDART00000143616 | Essential Splice Site | 43 | 107 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 38827495)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 38899095 |
| GRCz11 | 6 | 38896631 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAACATCGCTTACAAACAGCCGTGGACCGCCGCGATGGGAGGATTATCAG[G/A]TAAATTCCTTGGCTGTGTCTCAAGGTGAACTAACCAACTTAACATAGACA
Long Flanking Sequence:
AAATGACGGCCGCATATTTTCTCTTCCACACCCGCAGGCGTCGCTGTTCTCTGTCAAAAAGACGCATGATTTCACTTTTGCTCCTGAGCTGAACCTCTGCGAAGAGCAACAAACACCCCACACGACGCATTATGGAGCAGTAAATGACGGTAGATGTGGATTGATCGACTGAGGCGGACTCTCTCTTCTTTATAAAGCCCCAGTGAATGACATTTCTCCACTAGTGGCGATAACAACTACAGCTGGATTTCACCGCTGTCTCCAGGTCAAACGCGCGGATTCCCCACAACAACTATTTTTAGCATCTGGATAGTTCTTTGTTGTTTGAAGAGTATTTTCCTTGTTCATTCAGGTGGATCTGACGACAGGAATGGCGTTCAATAAGACGTATATTCGCGTGGGCTACTCGTGTATGGGGATGCTGGTGGGCTTTTCGGCGTTTCTGGTGTGGAACATCGCTTACAAACAGCCGTGGACCGCCGCGATGGGAGGATTATCAG[G/A]TAAATTCCTTGGCTGTGTCTCAAGGTGAACTAACCAACTTAACATAGACAGCATTGGTGGGCATCACTGACCAACTCGGAAAGAGCCTGTGATGTGTTGTGTTGGCAAATCCCAATTTTAGGACAAAAATGTTAACATGGATTTGAATGTTTTGGTGTAGATTTTAAAGAAATAGTTCTCCATAAAAAGAAAATATAATCTTTCTTTAATTTCTTTGAACACAAAAGAAGATTTTTTCAAGAAAGCTGAAAATCTCTAACTAGAAAAACAAATACTATGGAAGTCAATAGTTACAGGTTTTCAGCATTCTTCAAAATATCTTCTTTTGTGGTTAACAGAGAAAATAATTCATAAAGGTTTTAAAGAAGTAAAAGATGATTTATTTATGACAACATTTTAATTTTTAGGTGAATTATCTATTTAAGTAACTTGCAAAAAATTACATTTTTGATAGAAAGTTTTGCCTATTTAATTATAGGCAGAAGTAAAATGTAATTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20758
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 |
|---|---|---|---|---|---|
| ENSDART00000029930 | Essential Splice Site | 44 | 144 | None | 4 |
| ENSDART00000131347 | Essential Splice Site | 44 | 107 | None | 2 |
| ENSDART00000143616 | Essential Splice Site | 44 | 107 | None | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 38827496)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 38899096 |
| GRCz11 | 6 | 38896632 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATCGCTTACAAACAGCCGTGGACCGCCGCGATGGGAGGATTATCAGG[T/A]AAATTCCTTGGCTGTGTCTCAAGGTGAACTAACCAACTTAACATAGACAG
Long Flanking Sequence:
AATGACGGCCGCATATTTTCTCTTCCACACCCGCAGGCGTCGCTGTTCTCTGTCAAAAAGACGCATGATTTCACTTTTGCTCCTGAGCTGAACCTCTGCGAAGAGCAACAAACACCCCACACGACGCATTATGGAGCAGTAAATGACGGTAGATGTGGATTGATCGACTGAGGCGGACTCTCTCTTCTTTATAAAGCCCCAGTGAATGACATTTCTCCACTAGTGGCGATAACAACTACAGCTGGATTTCACCGCTGTCTCCAGGTCAAACGCGCGGATTCCCCACAACAACTATTTTTAGCATCTGGATAGTTCTTTGTTGTTTGAAGAGTATTTTCCTTGTTCATTCAGGTGGATCTGACGACAGGAATGGCGTTCAATAAGACGTATATTCGCGTGGGCTACTCGTGTATGGGGATGCTGGTGGGCTTTTCGGCGTTTCTGGTGTGGAACATCGCTTACAAACAGCCGTGGACCGCCGCGATGGGAGGATTATCAGG[T/A]AAATTCCTTGGCTGTGTCTCAAGGTGAACTAACCAACTTAACATAGACAGCATTGGTGGGCATCACTGACCAACTCGGAAAGAGCCTGTGATGTGTTGTGTTGGCAAATCCCAATTTTAGGACAAAAATGTTAACATGGATTTGAATGTTTTGGTGTAGATTTTAAAGAAATAGTTCTCCATAAAAAGAAAATATAATCTTTCTTTAATTTCTTTGAACACAAAAGAAGATTTTTTCAAGAAAGCTGAAAATCTCTAACTAGAAAAACAAATACTATGGAAGTCAATAGTTACAGGTTTTCAGCATTCTTCAAAATATCTTCTTTTGTGGTTAACAGAGAAAATAATTCATAAAGGTTTTAAAGAAGTAAAAGATGATTTATTTATGACAACATTTTAATTTTTAGGTGAATTATCTATTTAAGTAACTTGCAAAAAATTACATTTTTGATAGAAAGTTTTGCCTATTTAATTATAGGCAGAAGTAAAATGTAATTTTAG
Associated Phenotype:
Not determined