ZMP
LOC100333060
Ensembl ID:
Human Orthologues:
PITPNA, PITPNM3
Human Descriptions:
PITPNM family member 3 [Source:HGNC Symbol;Acc:21043]
phosphatidylinositol transfer protein, alpha [Source:HGNC Symbol;Acc:9001]
phosphatidylinositol transfer protein, alpha [Source:HGNC Symbol;Acc:9001]
Mouse Orthologue:
Pitpna
Mouse Description:
phosphatidylinositol transfer protein, alpha Gene [Source:MGI Symbol;Acc:MGI:99887]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa41657 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa41657
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002974 | Nonsense | 212 | 273 | 8 | 10 |
Genomic Location (Zv9):
Chromosome 10 (position 24765385)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 24364737 |
| GRCz11 | 10 | 24334189 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAAACTGGTTACTGTCAAGTTCAAGTGGTGGGGCCTGCAAAACAAAGTG[G/T]AAAACTTTATTCAAAAGGTCAGTGTGATTTACTGAAGAACTAATTACAGT
Long Flanking Sequence:
CCAAATTTGCTTGCCAAGCTTACAATTTCATTTTATATTCAGAATCACCAATAAAAATAAACCAAAACTGCCTCTTAAGTTTTATTTCTGAATGTTTGAATCGGCAGAAACTCGTAAAAGCACACGTCTGGTCTGAGCCGCTCCTCCAAAGAATCTTCAGTTTGTAGCGATCAATGATTGGCTCCTGTTCTAGGCTTCATCCGTTTTATTGACCGTTAAACTTTTCCCCATTCAAATCTATATGAGTGACATGACTTGTGTATTCTATAGTCTTTATTTTAATGTTGCTTGAAGGAGCTGTGTGCCAGTATAAACATAGTCAGTGAGTGCTTGAATTACAGTATGAGTGGGAAGCTTATTAATCGGAAATGATATGCTAATGCTTAATGGATTTTGCATCTGTGTAGAGAGAGCTACCTAAAAAGACAGACTGCCCACACATGTGTGCCTACAAACTGGTTACTGTCAAGTTCAAGTGGTGGGGCCTGCAAAACAAAGTG[G/T]AAAACTTTATTCAAAAGGTCAGTGTGATTTACTGAAGAACTAATTACAGTTAACGAGAAATCAAAACTCAACAAATTCAGTGCATGACTGGGGGTGTGTTCACAGGTTTAATTAAAACAATCTCTGGTTCAAATGCTCTGTTGGTGGAGTTCATTTCAATAGGTGTTTAACTTCCAAATTCACTGGAATATTACCATGATAAGAACAAAACGTCAGAAAAAGTACTGAATCTTAGCAAAATCTTGTCTCAAATACATAGAAAAGGAGCTCTATTGAAAGTATGAAATGTTCATTCAAATTGAAATACTCAAATATGTGATTTTTTTTTTGTTTTTAAAGAGACCCAGTGTGTGCTTTGTCTTTATTGTTTATGTTTTAATTACATTGTGGACTGTGTTGTAAAAAATACAAAGAAAAAAGAAAGCTACTCTCTAAATGTGAAATGCTAAGTTACAATAGCCTCCTTTCTCTGTCTAGGTAAGAATGGCCATCAATATTCA
Associated Phenotype:
Not determined