ZMP
slc22a4
Ensembl ID:
ZFIN ID:
Description:
solute carrier family 22 member 4 [Source:RefSeq peptide;Acc:NP_957143]
Human Orthologues:
SLC22A4, SLC22A5
Human Descriptions:
solute carrier family 22 (organic cation/carnitine transporter), member 5 [Source:HGNC Symbol;Acc:10
solute carrier family 22 (organic cation/ergothioneine transporter), member 4 [Source:HGNC Symbol;Ac
solute carrier family 22 (organic cation/ergothioneine transporter), member 4 [Source:HGNC Symbol;Ac
Mouse Orthologues:
Slc22a21, Slc22a4, Slc22a5
Mouse Descriptions:
solute carrier family 22 (organic cation transporter), member 21 Gene [Source:MGI Symbol;Acc:MGI:192
solute carrier family 22 (organic cation transporter), member 4 Gene [Source:MGI Symbol;Acc:MGI:1353
solute carrier family 22 (organic cation transporter), member 5 Gene [Source:MGI Symbol;Acc:MGI:1329
solute carrier family 22 (organic cation transporter), member 4 Gene [Source:MGI Symbol;Acc:MGI:1353
solute carrier family 22 (organic cation transporter), member 5 Gene [Source:MGI Symbol;Acc:MGI:1329
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24040 | Essential Splice Site | Available for shipment | Available now |
| sa19273 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa24040
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 |
|---|---|---|---|---|---|
| ENSDART00000024342 | Essential Splice Site | 483 | 553 | 8 | 10 |
The following transcripts of ENSDARG00000005335 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 44232937)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 45864278 |
| GRCz11 | 21 | 45902625 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGACGGCCCGCATCGGCAGCATCATCTCGCCCTTCATCATATACCTGG[G/A]TATCTTCTTCTGCTGCGGTATTAGCATTACCGCTGATGTTAATGCTCATT
Long Flanking Sequence:
CTACAACAACACTACAGCAACACTACAGCAACACTACAGCAACACTACAGCAACACTACAACAACACTACAACAACACTACAGCAACACTACAGCAACACTACAGCAACACTACAGCAACACTACAACACTACAAACTAGGATGGATTTTTCCAAATGTGGTATTATGTTAATTACTCATCTGAAATGAATGATGGTTGATTTTATTCTGTAAATAATGTAGTGCATAATAACCGCTGGATGTTCACACTGTCTGAGGGATGTTTGCTCAGAGTGCTGTCCTGTTATTTACCTCGCGCTGTATGATCTGTCCTGCAGAGCTGCAGGGTTTGTCTACGGCACTGGAGATGCTGGGTAAACTGTGTGTGACGGCTGCGTTCTGTGTGGTTTACGCCGTGACCTCTGAACTCTTCCCTACGGTGGTGAGGAACATGGCCATGGGCTCCTGCTCCATGACGGCCCGCATCGGCAGCATCATCTCGCCCTTCATCATATACCTGG[G/A]TATCTTCTTCTGCTGCGGTATTAGCATTACCGCTGATGTTAATGCTCATTTGAATATATTCTAATGAAGTGTGTTTGTACAGGGAACTACTACAGGTACATTCCCTACATTGTGATTGGCGGTCTGGCCCTGTTTTCTGGCGTAATGTCGTTACTGCTGCCCGAGAGCAAAGGAAAGGTTCTGCCAGAGACCATCGCTCAGATGCAGAGCGTACGAGGGTAAATATACCGGCCTGCTGCAGTAAACTACTGTAAACACTGACTGGGGCTACATGGCTCTTCTGCATGTCATGTGGAGATTTAATCTAACTTCAGTTCTGTGTGTTTGTGCTCTTAGACAGCCTGCATGTGCTGAAAGTCTGATCTTAAATAGCTGTAGTGCTCCTGCTGTATATTAAGTGGCCTTAACTGCTGGATATTTACATTAAAAGAAGAACAATACTGATTGTGTTCATAATGTACGGCACAAGCCTTCTGGTGCTCTTGAGGAGGTGATGTGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19273
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000024342 | Nonsense | 528 | 553 | 9 | 10 |
The following transcripts of ENSDARG00000005335 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 44233151)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 45864492 |
| GRCz11 | 21 | 45902839 |
KASP Assay ID:
2261-6133.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGCAAAGGAAAGGTTCTGCCAGAGACCATCGCTCAGATGCAGAGCGTA[C/T]GAGGGTAAATATACCGGCCTGCTGCAGTAAACTACTGTAAACACTGACTG
Long Flanking Sequence:
TAATGTAGTGCATAATAACCGCTGGATGTTCACACTGTCTGAGGGATGTTTGCTCAGAGTGCTGTCCTGTTATTTACCTCGCGCTGTATGATCTGTCCTGCAGAGCTGCAGGGTTTGTCTACGGCACTGGAGATGCTGGGTAAACTGTGTGTGACGGCTGCGTTCTGTGTGGTTTACGCCGTGACCTCTGAACTCTTCCCTACGGTGGTGAGGAACATGGCCATGGGCTCCTGCTCCATGACGGCCCGCATCGGCAGCATCATCTCGCCCTTCATCATATACCTGGGTATCTTCTTCTGCTGCGGTATTAGCATTACCGCTGATGTTAATGCTCATTTGAATATATTCTAATGAAGTGTGTTTGTACAGGGAACTACTACAGGTACATTCCCTACATTGTGATTGGCGGTCTGGCCCTGTTTTCTGGCGTAATGTCGTTACTGCTGCCCGAGAGCAAAGGAAAGGTTCTGCCAGAGACCATCGCTCAGATGCAGAGCGTA[C/T]GAGGGTAAATATACCGGCCTGCTGCAGTAAACTACTGTAAACACTGACTGGGGCTACATGGCTCTTCTGCATGTCATGTGGAGATTTAATCTAACTTCAGTTCTGTGTGTTTGTGCTCTTAGACAGCCTGCATGTGCTGAAAGTCTGATCTTAAATAGCTGTAGTGCTCCTGCTGTATATTAAGTGGCCTTAACTGCTGGATATTTACATTAAAAGAAGAACAATACTGATTGTGTTCATAATGTACGGCACAAGCCTTCTGGTGCTCTTGAGGAGGTGATGTGGGTGAGTTGCACAGCTTTGGTGGTGGTGGTGTGTGTGTGTGTGCATGCGTGTGTGTGTGTGTATGTGTGTGTGTGTTGACGTGGGGGGGTGGGGTAAGTGATGGTCAGCAGCAACATTATAAATGATGAAGCAGAAATTATTAAAGATGTAATCACATGCAGATCAAATGTAATATATAAGTGTGTTATTGTACCTAATTATTCAAGTAAATTTAG
Associated Phenotype:
Not determined