ZMP
ENSDARG00000002585
Ensembl ID:
Human Orthologue:
PITPNM3
Human Description:
PITPNM family member 3 [Source:HGNC Symbol;Acc:21043]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14941 | Nonsense | Available for shipment | Available now |
sa39345 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa14941
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000005305 | Nonsense | 184 | 397 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 21 (position 38746522)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 39886753 |
GRCz11 | 21 | 39885623 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATAACCACACGTTTTGATTGCTTTCCAGACACTGGCAGGATCTGGGATA[T/A]CTGATCATCTACATCACRGGCCGTCCTGACATGCAGAAGCAGAGGGTGGT
Long Flanking Sequence:
AGGATATTTATACGAACTGTTAATAGAGTGCAGTAAATATGAAACTATAAAACTGCCAGTAGAGGGTGACAAATAGGGTCATTTAGCCACCCATTCAAAAAACAGTATCTTCAGTATGTCCTTGTCTCAGATTATTTTGAGTTGTCTCACTTACTCAATTGAACTAAAAAAAGAAACCGAAAACATCCAGCACTGCCATTATTTTCACATATTCTGCTGATAGACTATTGTATGGTATTTTTCAGCTCTGTTATTACAGGATAACAGTGTAGATAACCCACTACAAAACATTTATGATTCTTTAAAATCATAACAATCATAATAAATCGGAACAGGTCATGCAGTACAACCTGATGATAAGTCAAAAAATGTTTAGTTGACCTTATTCATCAAGTTCAACCACTTAACCCATTCTTATTCAATTATTTATTTGATCATTGTTGGCCCATGTATAACCACACGTTTTGATTGCTTTCCAGACACTGGCAGGATCTGGGATA[T/A]CTGATCATCTACATCACGGGCCGTCCTGACATGCAGAAGCAGAGGGTGGTGTCTTGGCTCTCTCAGCACAACTTCCCTCAGGGAATGGTCTTCTTCTCTGAGGGACTCGTTCATGACCCATTGCGTCAGAAAACCATTTTTTTGAAGAGTCTGGTGAAAGAGGTCTGTATCACATGCAGTCTTATAACCAGCTTCATTTTTATTTAAAACACCTCACATATCTGACTTTTTCATTGGGCTGGCAGATAATGCTATATATATATATTTTTTTTTCCACGCAGTGTCACATTAAGATCAGTGCAGCATATGGCTCTATGAAGGACATGTCCGTGTACAGCACACTTGGACTGGCACCTAATCAGATATACATTGTTGGCAGACCATCGAAGAAACATCAGCACCAGTGTCAGGTAATCACTCAATTGTCTATGACGTTTTTTTCATCATCAAGTACTTTCCTTAATCACTTAATACAATTTATTGTCCCCAACGGCAAAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39345
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 |
---|---|---|---|---|---|
ENSDART00000005305 | Nonsense | 198 | 397 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 21 (position 38746482)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 39886713 |
GRCz11 | 21 | 39885663 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTGGGATATCTGATCATCTACATCACGGGCCGTCCTGACATGCAGAAG[C/T]AGAGGGTGGTGTCTTGGCTCTCTCAGCACAACTTCCCTCAGGGAATGGTC
Long Flanking Sequence:
GAAACTATAAAACTGCCAGTAGAGGGTGACAAATAGGGTCATTTAGCCACCCATTCAAAAAACAGTATCTTCAGTATGTCCTTGTCTCAGATTATTTTGAGTTGTCTCACTTACTCAATTGAACTAAAAAAAGAAACCGAAAACATCCAGCACTGCCATTATTTTCACATATTCTGCTGATAGACTATTGTATGGTATTTTTCAGCTCTGTTATTACAGGATAACAGTGTAGATAACCCACTACAAAACATTTATGATTCTTTAAAATCATAACAATCATAATAAATCGGAACAGGTCATGCAGTACAACCTGATGATAAGTCAAAAAATGTTTAGTTGACCTTATTCATCAAGTTCAACCACTTAACCCATTCTTATTCAATTATTTATTTGATCATTGTTGGCCCATGTATAACCACACGTTTTGATTGCTTTCCAGACACTGGCAGGATCTGGGATATCTGATCATCTACATCACGGGCCGTCCTGACATGCAGAAG[C/T]AGAGGGTGGTGTCTTGGCTCTCTCAGCACAACTTCCCTCAGGGAATGGTCTTCTTCTCTGAGGGACTCGTTCATGACCCATTGCGTCAGAAAACCATTTTTTTGAAGAGTCTGGTGAAAGAGGTCTGTATCACATGCAGTCTTATAACCAGCTTCATTTTTATTTAAAACACCTCACATATCTGACTTTTTCATTGGGCTGGCAGATAATGCTATATATATATATTTTTTTTTCCACGCAGTGTCACATTAAGATCAGTGCAGCATATGGCTCTATGAAGGACATGTCCGTGTACAGCACACTTGGACTGGCACCTAATCAGATATACATTGTTGGCAGACCATCGAAGAAACATCAGCACCAGTGTCAGGTAATCACTCAATTGTCTATGACGTTTTTTTCATCATCAAGTACTTTCCTTAATCACTTAATACAATTTATTGTCCCCAACGGCAAAATGTGTATTGAAAAAAAAATTCTAATTAATGTAGGGGAAAAAA
Associated Phenotype:
Not determined