ZMP
abcd1
Ensembl ID:
ZFIN ID:
Description:
ATP-binding cassette sub-family D member 1 [Source:RefSeq peptide;Acc:NP_001104656]
Human Orthologue:
ABCD1
Human Description:
ATP-binding cassette, sub-family D (ALD), member 1 [Source:HGNC Symbol;Acc:61]
Mouse Orthologue:
Abcd1
Mouse Description:
ATP-binding cassette, sub-family D (ALD), member 1 Gene [Source:MGI Symbol;Acc:MGI:1349215]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa21198 | Essential Splice Site | Available for shipment | Available now |
sa509 | Splice Site, Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21198
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 |
---|---|---|---|---|---|
ENSDART00000111392 | Essential Splice Site | 367 | 766 | 2 | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 8598482)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 8015064 |
GRCz11 | 8 | 8053649 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTTATGGTTGCTGTGCCTATCATCACTGCCACCGGATACTCTAAATATG[G/A]TATGGATTCAATTATGATTACGATCTGTAGTTCCTGTTCTCATCTTTCTC
Long Flanking Sequence:
TACAAAGAAGGCCCTGGAATTGGAGCAAAAGTCTGTATGCTCCTCTTTGACCCCAAAATTCACACATTTCCCGACCTCCTCTTTACATTCATGATGGTTTTAATTCGCTCTGATTTTATTCATGAAGACGCATGTTTGATATCAGCCCTAAACACTTCTGGGATGCGCAGTAGTCATTAATCAGAAGGCCTGACCGGACGTTTTATTATTGGAAAGCAGTTTTTGAGCTCCTCAGCTTGATGTTGTCTTGTTGCCTGTGTATCTGTGTGTATGCTTGCCTGCGCGTGTGTTTGCGCGCCTGCGTGTGTGCCCTGCGCAGATCGAGATGTTGCAGCTGCAGCGGAGCTACAACTCGCTGTCCAGGCAGATTAACCTGATCTTGTTTAAGAGGCTGTGGTATGTCATGCTGGAGCAGTTCCTGATGAAATATCTCTGGAGCGCATCGGGCCTGGTTATGGTTGCTGTGCCTATCATCACTGCCACCGGATACTCTAAATATG[G/A]TATGGATTCAATTATGATTACGATCTGTAGTTCCTGTTCTCATCTTTCTCTGTGTGTGTGTCTGTGACTTCAGACCTTTTGGCTCTGCATTTGTTTTCATCCAAAACATCCTTGATCCTTGTGCTGATGTGGTGTTCTTAAAGGGGACACTTAAGTAGCATTTTATTTTAAAAATTATAATTAAATCGTAAATAACTGTTATCAAATGTTGTTTTTTTTAAATGTAGTTTGATATTTGAATGCAAAGCTGAATTTTCAGCATCATCCCTCCAGTCTTGATAGTCACTTCATCCTTAAATAATTGTTTTAATAAGTTTCAATAATATGCTGGTTTGGGCACCTCTCCTGTTCAACCTTTACATGCTCCCTCTGAGCCAAATAATGAGAAAGAACCAAATCTCCTACCACAGCTATGCTGATGACACTCAGATCTACCTAGCCTTACTGCCTAATGACTACAGCCCCATTGACACCCTCTGCCAATGCATTGATGAAATGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa509
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111392 | Splice Site, Nonsense | 672 | 766 | 9 | 10 |
Genomic Location (Zv9):
Chromosome 8 (position 8626015)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 8042597 |
GRCz11 | 8 | 8081182 |
KASP Assay ID:
554-0228.1 (used for ordering genotyping assays)
KASP Sequence:
AAAGGATGCCGGGATTTCGCTCCTCTCCATTACTCACCGTCCTTCTCTCT[G/A]GTGGGTTTTGAATCGTATGAAAATGAACAGCAGTTCGTTTATTACCAGAA
Long Flanking Sequence:
CACTTCTCCTCTCTGAAAGAAACAAAATAACACTTTGAAGATGCTAAATTGCGATACATGGAATAATAATTTGCTCGTGGTTTCCTTAAAGCCACCCAACTGATAAATATTCAATTACTGAACGCTATTAGAATTTAACAGGAGATTCAGTGGGTGTTTCTGCAATCTATACAGCTCACTTTGCATTTGAAGCGAGCGGCTGCTTTAGGGGAGATTATTGTAGAAGCGCTCAGATATTTATTAATGGAAAAGAGAAAGCGGGAATATAAAAAATTAAACAATTCAACCGCGAACTGCTGCTTTTAAGTCTGTTTAAAAAAGTCCTCAAGAAGTTGTGTGTTTAAGGCTGATAAATCTGTGGTTTATCTCTAACAGGCCTCAGTACGCCCTCCTGGATGAGTGCACGAGCGCTGTGAGTATTGATGTGGAGGGCAAAATCTTTGAAGCCGCAAAGGATGCCGGGATTTCGCTCCTCTCCATTACTCACCGTCCTTCTCTCT[G/A]GTGGGTTTTGAATCGTATGAAAATGAACAGCAGTTCGTTTATTACCAGAAAATAGCCATGTATTCCTGTTCCTGAATCCTAAACATAAGATTAAAGGGCTGGTATGATGGAAAACAGGATTTTCTGGCTGGTTTTGAAGTAGAGGGTTTGATGTGCTATCTGAGTAGACATGCTTTAATATTCACAACACAAAAGTGCTGTCTTGGACCACCCAGACTAGTTCTCCAGCAGAGCTGTGATAATGGGTTGTTAAAGGTGCTGAATAGCATAGCATAAAATCATAAATAGGTGAAAACACCTTGGCTCTAGGCACAAAAAAAGAGTCAGGGGAATAGACTTTGCTTTATAATCTGTCTGAAAACCAGCCACTTTCTACTTTTGAATCATGGGATTTAGAGAACGAGTGCAAGGGTGTAAGCAACTCTTTAAGCAATTCTGAACATACAGTTGAAGTCAGAATTATTATCCCTACTGTGCATTTCTTTCTAAATATTTCCCAA
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |