ZMP
RPH3A (2 of 2)
Ensembl ID:
Description:
rabphilin 3A homolog (mouse) [Source:HGNC Symbol;Acc:17056]
Human Orthologue:
RPH3A
Human Description:
rabphilin 3A homolog (mouse) [Source:HGNC Symbol;Acc:17056]
Mouse Orthologue:
Rph3a
Mouse Description:
rabphilin 3A Gene [Source:MGI Symbol;Acc:MGI:102788]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24863 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa9918 | Essential Splice Site | Available for shipment | Available now |
sa41577 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa24863
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092684 | Essential Splice Site | 177 | 597 | 5 | 16 |
Genomic Location (Zv9):
Chromosome 10 (position 3503445)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 3495639 |
GRCz11 | 10 | 3495943 |
KASP Assay ID:
554-7443.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCATTTCAGAAAGCGTTCAGGTCACCGGCAGAGAGCAGCAGATATCTGG[T/C]AAGTGTCCCGCATTTCAATAACATTTAATATCAGCAAGAGGAAATGAGGC
Long Flanking Sequence:
ACATCTAAATTAGCCCCCAAAAAGTATTGAACACACGAAGAAAGGAAGGTGTAGAAAGGCAGTGAAAGCCCAGACAGCAGCTGAAATCTCTCAGTAGTTCTTCAGCAACCCTCTGCCCTTCATCATTTTAAATGAACTAATATTAGTTCTTCAGTCCAACATCTAAATTAGCCCCCACCCACCCCCCAAGAAACATACATGTATAATGGGAACAGTATAACAGGAAAACTTTAGAAAAGTTTTCCAAACCACTGTAAACCTTGAAACCTCTTATCATCCCATGCCCACTTTCCAGTTTAGAACTGATTTGCAAATTACACATTAAAAATTCTGAATACTGTGCAGTTTTCATGCATTTTGCCTTAGGCTTGGGTAATTTATTGTAATGTTTTCATAACTCACGATTCAAAGGATCTGATAGTTTTTCTTTCCATCCTGGGATAATTGCCTTGCATTTCAGAAAGCGTTCAGGTCACCGGCAGAGAGCAGCAGATATCTGG[T/C]AAGTGTCCCGCATTTCAATAACATTTAATATCAGCAAGAGGAAATGAGGCATAAGATGAATCACGCAGTATCATTTACTCGCTTTCTCCCATGCTCAGCAGAAACCATGCCCGCTAAACGGGAAGAGCGTTCTGTCATATCCCAAAGAGCCCTAGAGGAGGACGGAGGGAGACACAGGAGCACGGTTCAGTCCGACGCCGCAATGGAAGGACAAACTTTCTCACCTGTGGTCAAGCGAGAAGTGCCGGTGCAGAGTTCCAGACCTCCAGCGTCCAGCTTTTCCACAACTCCAATACAAAAAGGTGAGAGAATTTATCATGTAGTGGTTATGATTCAGCATGGACAACTGCATGTCATTACACACACACACTTGTTTCTATATCCAAGTGGGGACTCTCATATATGTAATTATATTTTTACAATACAAAACATACAGTTGAAACCAGAAGTTTACACACACTGTATAAAAGGCACATGATTTAAAATAAAGTCAGATGTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9918
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092684 | Essential Splice Site | 243 | 597 | 6 | 16 |
Genomic Location (Zv9):
Chromosome 10 (position 3503748)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 3495942 |
GRCz11 | 10 | 3496246 |
KASP Assay ID:
2260-2779.1 (used for ordering genotyping assays)
KASP Sequence:
GAGTTCCAGACCTCCAGYRTCCAGCTTTTCCACAACTCCAATACAAAAAG[G/T]TGAGAGAATTTATCATGTAGTGGTTATGATTCAGCATGGACAACTGCATG
Long Flanking Sequence:
TGATTTGCAAATTACACATTAAAAATTCTGAATACTGTGCAGTTTTCATGCATTTTGCCTTAGGCTTGGGTAATTTATTGTAATGTTTTCATAACTCACGATTCAAAGGATCTGATAGTTTTTCTTTCCATCCTGGGATAATTGCCTTGCATTTCAGAAAGCGTTCAGGTCACCGGCAGAGAGCAGCAGATATCTGGTAAGTGTCCCGCATTTCAATAACATTTAATATCAGCAAGAGGAAATGAGGCATAAGATGAATCACGCAGTATCATTTACTCGCTTTCTCCCATGCTCAGCAGAAACCATGCCCGCTAAACGGGAAGAGCGTTCTGTCATATCCCAAAGAGCCCTAGAGGAGGACGGAGGGAGACACAGGAGCACGGTTCAGTCCGACGCCGCAATGGAAGGACAAACTTTCTCACCTGTGGTCAAGCGAGAAGTGCCGGTGCAGAGTTCCAGACCTCCAGCGTCCAGCTTTTCCACAACTCCAATACAAAAAG[G/T]TGAGAGAATTTATCATGTAGTGGTTATGATTCAGCATGGACAACTGCATGTCATTACACACACACACTTGTTTCTATATCCAAGTGGGGACTCTCATATATGTAATTATATTTTTACAATACAAAACATACAGTTGAAACCAGAAGTTTACACACACTGTATAAAAGGCACATGATTTAAAATAAAGTCAGATGTTAATTTGACTAAACTTTTTCTCTTTTAGGTAAGTTTGGATTATTATATTGTTTCTGCTTAATAGCAGAATAACGAGAGAGATATTGTTTGAAAAATTTGGTAATTTGAAAGTCATGTTTACATATAAGATTATTCTGCCTCTGAAAAAGCTCAGATGATGGTGTCAAGGTTTTGAAAGTTTCTGACTGGCTAATTGACAACATTTGAGTTAGCTGGAGGCACAACTGTAGAATAGCATTTAAGGAAAACCTCAAACACACTGCTTCCTAGTGTGACAACATGGGAAAATCAACAAGCCAGAATCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41577
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092684 | Nonsense | 487 | 597 | 13 | 16 |
Genomic Location (Zv9):
Chromosome 10 (position 3515380)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 3507574 |
GRCz11 | 10 | 3507878 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGGTGTCGTCCGATGTGCTCATCTGGCAGCAATGGACTCCAATGGCTA[T/A]TCAGACCCGTTTGTAAAGATGTAAGGAACTCTAACACGATCTAATTCGAA
Long Flanking Sequence:
TTGGGGCGAGGCAGTGGCGCAGTAGGTAGTGCTGTCGCTTCACAGCAAGAAGGTTGCTGGTTCGAGCCTCAGCTCAGTTGACGTTTCTGTGTGGAGTTTGCATGTTCTCCCTGCCTGCTGGTCATCTCCCACCCTCTCCAGCTAAGACCAGGCTGGAAATGGCTGGAAACCAGCCTGGAAGTGGCCAAAACCCCTCTAAAACCAGCCTGGTCAACCAGCTAAAGCAAGCCAACCAGCTTAGGCTGGTTTAAGCTGTTTTTTTCAGTAGGGCATCAGGCATGTATTTCCAGTTTTCCTCGGTTGGGTTTGAATAATTGCAAAAAGCATCGTCATAAATGAGGGCTTCACTCATATTACGTGTGGCTTTTTTAGTTGAAGGATGATGAAGCAGAGGAAAGAGGACGGATCCTGGTTTCCCTCACCTACAACAGTCAACAAGGTCGTCTGATCGTGGGTGTCGTCCGATGTGCTCATCTGGCAGCAATGGACTCCAATGGCTA[T/A]TCAGACCCGTTTGTAAAGATGTAAGGAACTCTAACACGATCTAATTCGAAATCAGAAGCAGATTCACTGAAAGCAGTTCTCTAAGTGTGATTAAAACGTTCTCTGTGTTCATCGTTCGCATGGTGGTGTTGTTTTGTGGCGCTCATTAGGCTTGTTTAATGATCACAAAAGCGCCTTTGAATTCTTGTGCTGTTTTGCAGTTGCTTGAAGCCTGACATGGGAAAGAAAGCGAAGTACAAGACTCAGATCAAAAAGAAGACCCTTAACCCTGAGTTTAATGAGGTACTCTTTCTTTCTCTTCATGTCTGGCGATGTGACCTGCAGGGAACGTTTTGAAGCATGACACTGATGTGCTTCCGTCACAGTGCTTTCATATGCTTTTCTTGACATGCATCATGGGAAATGTCATGCTTCCTTTGTTGTTGTTGTCATGTTAAAATATATTTGTTTGATTACAGGAGTTCAGCTATGAAATCAAGCATGGTGAACTGGCCAAGAAG
Associated Phenotype:
Not determined