ZMP
ENSDARG00000087347
Ensembl ID:
Human Orthologues:
ABCD2, AC138915.1
Human Description:
ATP-binding cassette, sub-family D (ALD), member 2 [Source:HGNC Symbol;Acc:66]
Mouse Orthologue:
Abcd2
Mouse Description:
ATP-binding cassette, sub-family D (ALD), member 2 Gene [Source:MGI Symbol;Acc:MGI:1349467]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32561 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32561
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 |
---|---|---|---|---|---|
ENSDART00000128027 | Nonsense | 244 | 293 | 6 | 6 |
Genomic Location (Zv9):
Chromosome Zv9_NA422 (position 16688)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN150165.1 | 16688 |
GRCz11 | KN150165.1 | 16688 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTTGACGGGGAGGGCGGATGGCGGTTCGAGCAGCTGGACACGGCCACG[C/T]GACTCTCGCTGACGGAGGAAAAGCAGCGCCTGGAGTCTCAGCTGGCGGGG
Long Flanking Sequence:
GAGCTGAATGACTTTTTGTACCAGTTATTATAAAGGCACGGTGGCTCAGTGGTTAGCACTCACAGCAAGAAGGTCACTTGTTCGAGTCCCGACTGTGTCAGTTGGCGTTTCCGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGCGTTGGTTTCCTCCCCCCACAGTCCAAACACGTGCACTATAGGGGAACTGATCAACCAAATTGGCCGCAGTGTATGAGTGTGCATGGGTGTTTCCTAGTACTGGGTTGCTTCTGGAAGGGCATCCGCTGTGTAAAACATATGCTGGAATAGTTGTTGGTTCATTCCGCTGTGGCGACCTCTAATAAATAAGAGACTAAGCCGAAGGAAAATGAATGAGTGAGTTGTAAATATGCAAACTATATATAGGATGTCATCAAATAATGTGGTGTAACCGCGTCCTCAGGAAATACCACACACACCTGCTGCAGTTTGACGGGGAGGGCGGATGGCGGTTCGAGCAGCTGGACACGGCCACG[C/T]GACTCTCGCTGACGGAGGAAAAGCAGCGCCTGGAGTCTCAGCTGGCGGGGATCCCCAAGATGCAGCTGAGGCTGAACGAACTGTGTAAGATCTTGGGCGAAGATTCAGTGCTGAAGACGGTGGAACCAAGACCGGACGACGAGGAGGAATGAAGGAAAGCCGGAGAGTATCGCTCTTCAGGAAAACTGTTTTAGGAACGATTTTAAGATTTGATTGAATACGTCACAATTTAATACTAAACTTGTTTTAGTTTGTCAGGAGTTGGAGAAATCATCCCCCTTTTGTTTGTTTGTTTGTTTTTTATTTTCGTTTTGCTGTTTGATTTTGTTTTGCTTAGAATTTTTGTTTATTTTTTATTTTATTTCGGGTTTTTTTTCTTTCCTGCTCTGGTTTGCTCTGTTTTCGTTTTGTTTTTCTTTTCTTTTTGTTCACCTTTTTATCTTGTTGTTTAGTTTTCTTGCACATTTTTGCTTCGCTGTTTTGCTTTGTAGATTTTGTCT
Associated Phenotype:
Not determined