ZMP
ENSDARG00000091844
Ensembl ID:
Human Orthologue:
ADAMTS13
Human Description:
ADAM metallopeptidase with thrombospondin type 1 motif, 13 [Source:HGNC Symbol;Acc:1366]
Mouse Orthologue:
Adamts13
Mouse Description:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 Gene
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa38214 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa32563 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38214
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 |
---|---|---|---|---|---|
ENSDART00000126385 | Nonsense | 300 | 692 | 6 | 6 |
Genomic Location (Zv9):
Chromosome Zv9_NA786 (position 21446)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN150603.1 | 21446 |
GRCz11 | KN150603.1 | 21446 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACAACAACAAGCAAACCACCATCCAAATCCAAAACAACCACCAAAGTG[C/T]GAACCACAACCACAGCACAAACCACCTTGTCAACAAGCACACCTCAGTTA
Long Flanking Sequence:
GTACGAATTCATACGAATTAGCCACTGAATCAAAAAGTTATGAATTGCCGTGAGATTGTGTTGGATACTCCCAAAATAATTCTGCATAAATCTGCAGATTTTTTTTACAAATTTCTTAGCAAAAAGAGCTAAAAATGGCCATGGTTACTATATAGTTAATTAAAGTAACGAATACCCTTAACTTTTCCGAATTCGATTATAATGCATTAATCTGCACCTTTTGTAAAGCTTTTTTAAAACAAATTATTTTGAAAAGTGCTATACAACCAAATTTGAATTGAATTCATAACAGCTTGATTGCAGTGTTGCTCTCCTGTTTTGCAGAGCTGCGCTGTCACGGTGATCGCTCTGCATTCTGCCGCATGGAGATTTTACAGCAGTACTGCTCTCTGCCCAGCTTCCAGCGCATGTGCTGCAAGTCCTGCAAACTTGCCAATTCCACAAACCCAACAACAACAACAAGCAAACCACCATCCAAATCCAAAACAACCACCAAAGTG[C/T]GAACCACAACCACAGCACAAACCACCTTGTCAACAAGCACACCTCAGTTACACACAACATCAGACGCAACAACAGCACCCATTTACCAAAACACAACAACTCCGTGGTATAAGCACACAATGGACACATCCACAGAAGATGATGAACATACAGCTAGGACTTATACAAGTGCTTCAGATGCTCATGAATACACAACAGCACCCATTTACCAAAATACCACAACTCCATATAACCACACAACGGAAACATCAACAGAAGATGAACATGCATCTAGTGTGGGCACACCTCGCATATATAAAAGTACATCAGATACTCAGGAATACACCATAGCACACATTTACCAAAACACTACATCTCCGTATTATAACCACTCAACGGAAACATCCACAGAAGATGACGAACATACATCTAAGACATATACAAGTACTTCAGATACTCCTGAATACACAACAGCACCCATTTTCCAATACACATCTCCTATCTATGACCACATAATGGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32563
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 |
---|---|---|---|---|---|
ENSDART00000126385 | Nonsense | 306 | 692 | 6 | 6 |
Genomic Location (Zv9):
Chromosome Zv9_NA786 (position 21464)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN150603.1 | 21464 |
GRCz11 | KN150603.1 | 21464 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATCCAAATCCAAAACAACCACCAAAGTGCGAACCACAACCACAGCA[C/T]AAACCACCTTGTCAACAAGCACACCTCAGTTACACACAACATCAGACGCA
Long Flanking Sequence:
TAGCCACTGAATCAAAAAGTTATGAATTGCCGTGAGATTGTGTTGGATACTCCCAAAATAATTCTGCATAAATCTGCAGATTTTTTTTACAAATTTCTTAGCAAAAAGAGCTAAAAATGGCCATGGTTACTATATAGTTAATTAAAGTAACGAATACCCTTAACTTTTCCGAATTCGATTATAATGCATTAATCTGCACCTTTTGTAAAGCTTTTTTAAAACAAATTATTTTGAAAAGTGCTATACAACCAAATTTGAATTGAATTCATAACAGCTTGATTGCAGTGTTGCTCTCCTGTTTTGCAGAGCTGCGCTGTCACGGTGATCGCTCTGCATTCTGCCGCATGGAGATTTTACAGCAGTACTGCTCTCTGCCCAGCTTCCAGCGCATGTGCTGCAAGTCCTGCAAACTTGCCAATTCCACAAACCCAACAACAACAACAAGCAAACCACCATCCAAATCCAAAACAACCACCAAAGTGCGAACCACAACCACAGCA[C/T]AAACCACCTTGTCAACAAGCACACCTCAGTTACACACAACATCAGACGCAACAACAGCACCCATTTACCAAAACACAACAACTCCGTGGTATAAGCACACAATGGACACATCCACAGAAGATGATGAACATACAGCTAGGACTTATACAAGTGCTTCAGATGCTCATGAATACACAACAGCACCCATTTACCAAAATACCACAACTCCATATAACCACACAACGGAAACATCAACAGAAGATGAACATGCATCTAGTGTGGGCACACCTCGCATATATAAAAGTACATCAGATACTCAGGAATACACCATAGCACACATTTACCAAAACACTACATCTCCGTATTATAACCACTCAACGGAAACATCCACAGAAGATGACGAACATACATCTAAGACATATACAAGTACTTCAGATACTCCTGAATACACAACAGCACCCATTTTCCAATACACATCTCCTATCTATGACCACATAATGGAAACATCCACTGAAGAAAAC
Associated Phenotype:
Not determined