ZMP
slc25a47b
Ensembl ID:
ZFIN ID:
Description:
Solute carrier family 25 member 47-B [Source:UniProtKB/Swiss-Prot;Acc:A4QNX2]
Human Orthologue:
SLC25A47
Human Description:
solute carrier family 25, member 47 [Source:HGNC Symbol;Acc:20115]
Mouse Orthologue:
Slc25a47
Mouse Description:
solute carrier family 25, member 47 Gene [Source:MGI Symbol;Acc:MGI:2144766]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa30394 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44433 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30394
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 |
|---|---|---|---|---|---|
| ENSDART00000127752 | Nonsense | 60 | 200 | 7 | 8 |
Genomic Location (Zv9):
Chromosome Zv9_NA92 (position 43821)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 1503222 |
| GRCz11 | 17 | 729448 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTCAGCTGCGGGGTTTCTACAGAGGCATGT[C/A]GATGCCCATCAGCACCGTCTCCATCAGCTCGTCTCTGGTGTTCGGCACTT
Long Flanking Sequence:
GTCAAAACTGTGAGAAGAAAAGTTGGAATAGCGAGAAAGTCTACAAACTGCCAGATGTCAGAGTAGAGAGAAATCTTTACAATGGTTTGTTGCCAGCAGGGCGGCACAGTGGCTCAGTGGTTAGCACTGTGGCCTCACAGCAAGAAGGTCTCTGGTTTGAGACCCAGCTATAGGGGAATTGATGAACTAAATTGGCCATAGTGTATGAGTGTGTATTGGTGTTTCCCAGTACTGGATTGCAGCAGGAAGGTCATCTGCTGTGTAAAACATATGCTGGAATAGTTGGCAGTTCATTCCACTGTGACGGCCCCTGATAAATAAGGGACTAAGCTGCGGCTAAATGAATGAATGAATGGTCACAGCAACAGTATTATGGTGAACTAACCCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGCTGCGGGGTTTCTACAGAGGCATGT[C/A]GATGCCCATCAGCACCGTCTCCATCAGCTCGTCTCTGGTGTTCGGCACTTACAGGAACATCCTGCAGTTTCTGCATCAGCTGCAGCACAGGAGCGCTGGAGAGCCGCATCACAAAGCACACATATTCCTGGCCGGATTCACTGGAGGAGTCACTCAGGTCACTGCCACGGCTTATTGATATTATTATGATGACATTAGTGGATAGGTGATGGAAATTCAGTATTTTAGCCAGTTGACGTGAGGCACTGAAAGCTCAGCTAGTTTGACATTTAGGGTATAGTAGAAACCCTGATAAATGAGTGTGTGTGTATGTGTGTGTGTTGTGTTTCGTTACGTTTCAGGTGTTGGTGATGGCGCCTGCAGACATTGTGAAGGTGCGTCTTCAGTGTCAGACGGAGCCTGTTCAGCACATCAGCCAAGAGTCCAGCAGTAAATACCGTGGTCCGGTACAATGTTTACTCCGCATCGCACGGGACGAGGGTCTGCTGGGGCTCTATAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44433
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 |
|---|---|---|---|---|---|
| ENSDART00000127752 | Essential Splice Site | 112 | 200 | 7 | 8 |
Genomic Location (Zv9):
Chromosome Zv9_NA92 (position 43979)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 1503380 |
| GRCz11 | 17 | 729606 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCACAAAGCACACATATTCCTGGCCGGATTCACTGGAGGAGTCACTCAG[G/A]TCACTGCCACGGCTTATTGATATTATTATGATGACATTAGTGGATAGGTG
Long Flanking Sequence:
GAGACCCAGCTATAGGGGAATTGATGAACTAAATTGGCCATAGTGTATGAGTGTGTATTGGTGTTTCCCAGTACTGGATTGCAGCAGGAAGGTCATCTGCTGTGTAAAACATATGCTGGAATAGTTGGCAGTTCATTCCACTGTGACGGCCCCTGATAAATAAGGGACTAAGCTGCGGCTAAATGAATGAATGAATGGTCACAGCAACAGTATTATGGTGAACTAACCCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGCTGCGGGGTTTCTACAGAGGCATGTCGATGCCCATCAGCACCGTCTCCATCAGCTCGTCTCTGGTGTTCGGCACTTACAGGAACATCCTGCAGTTTCTGCATCAGCTGCAGCACAGGAGCGCTGGAGAGCCGCATCACAAAGCACACATATTCCTGGCCGGATTCACTGGAGGAGTCACTCAG[G/A]TCACTGCCACGGCTTATTGATATTATTATGATGACATTAGTGGATAGGTGATGGAAATTCAGTATTTTAGCCAGTTGACGTGAGGCACTGAAAGCTCAGCTAGTTTGACATTTAGGGTATAGTAGAAACCCTGATAAATGAGTGTGTGTGTATGTGTGTGTGTTGTGTTTCGTTACGTTTCAGGTGTTGGTGATGGCGCCTGCAGACATTGTGAAGGTGCGTCTTCAGTGTCAGACGGAGCCTGTTCAGCACATCAGCCAAGAGTCCAGCAGTAAATACCGTGGTCCGGTACAATGTTTACTCCGCATCGCACGGGACGAGGGTCTGCTGGGGCTCTATAAGGGGTCTGCTGCTTTAGCGCTGCGCGACGGACCCTCATTCGCCACTTACTTCCTCACTTACAACACTATATGTGAAATACTGACCACAGAGAACCAGCGGCCAGGTAAAACACCTTTACTCTGAACATACATCACATTATTAAAGTTACCTACAGTCAT
Associated Phenotype:
Not determined