ZMP
abcd3a
Ensembl ID:
ZFIN ID:
Description:
ATP-binding cassette sub-family D member 3 [Source:RefSeq peptide;Acc:NP_998647]
Human Orthologue:
ABCD3
Human Description:
ATP-binding cassette, sub-family D (ALD), member 3 [Source:HGNC Symbol;Acc:67]
Mouse Orthologue:
Abcd3
Mouse Description:
ATP-binding cassette, sub-family D (ALD), member 3 Gene [Source:MGI Symbol;Acc:MGI:1349216]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17682 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17682
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000019318 | Essential Splice Site | 438 | 656 | 15 | 23 |
The following transcripts of ENSDARG00000015167 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 24 (position 31225641)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 31381963 |
| GRCz11 | 24 | 31319174 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACTGGTGCCTGGAAGTGGAAGAATCATCAACATAGACAATATCRTCAAG[T/C]AAGAGTGGCTTCTCTCTGTCGCTGTATTTCAGTTTGGTGAACTATTTAWA
Long Flanking Sequence:
GTGAGCCCTGGGCTTGATATCAAATATCGATGTGTTTTTAACAGGACTACTATCAGAGCGGCCGTATGTTGTTGCGGATGTCGCAGGCATTGGGCAGAATCGTGCTTGCAGGCAGAGAAATGACGCGTCTATCAGGGTAAAAGTTCACACTTCTCATCATTGTGCACCAGCATGTGTTATTAACTTGTCTGGTTGCTTGCCATTTCATTAAAATAAGACAGTTTGATGGTGTGAAATGAGTTTGTCTTTGGCTTCAGCTTCACAGCTCGCATCACTGAGCTCATGAGAGTCCTGAAAGAGCTGAACTCTGGTAAATACGAACGCACCATGGTGTCCCAGTCAGAGAAAGGTGAGCTTCTGACACTTCTAAAATCTAAAATAATGCTATGTAGTTGATCTTTTTAATAGTTCGTTTGTATTTTTGGTGATCAGATGCTTCAGAAAAGCTCACACTGGTGCCTGGAAGTGGAAGAATCATCAACATAGACAATATCATCAAG[T/C]AAGAGTGGCTTCTCTCTGTCGCTGTATTTCAGTTTGGTGAACTATTTATACTAATTTTAACATTTGATTTCCCCTCAGGTTCGATCACACACCTCTGGCTACTCCTAATGGAGATGTTCTGATCAGAGATCTGTGTTTTGAGGTGTGTTAAACTTTGATTTTTATCATGTTTGATTTTATGTTTCGTTTCTTTTCTTGGACGCATAAGGATGTAATTCTGCCCCTAATAACTGCTTTTAAGGTGTCCCATAATATAATATATCCTGAGTTGACTTCTTCATTATCATTTTCTGTAAGAAATAATTCTATGTCCTCCTTAATTTGAGTTTGAAATTGTTTAGCATGCTTGTATTTAGTCTCCACAGTGTTCTTCCTCTGTTATCTCTAAAATACAGTTGAAGTAAGAATTATTAGCCCCCCTGAATTATTAGTGCATCTGTTTATTTTTTGGGTGGTGGTTTGGTGATGGTAGACTATCGAAAAAAACTAAATCCCTTAAA
Associated Phenotype:
Not determined