ZMP
rfc1
Ensembl ID:
ZFIN ID:
Description:
replication factor C subunit 1 [Source:RefSeq peptide;Acc:NP_001082960]
Human Orthologue:
RFC1
Human Description:
replication factor C (activator 1) 1, 145kDa [Source:HGNC Symbol;Acc:9969]
Mouse Orthologue:
Rfc1
Mouse Description:
replication factor C (activator 1) 1 Gene [Source:MGI Symbol;Acc:MGI:97891]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa19495 | Essential Splice Site, Missense | Available for shipment | Available now |
| sa11513 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19495
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 > G
Consequence:
Essential Splice Site, Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077055 | None | None | 529 | None | 13 |
| ENSDART00000114600 | Essential Splice Site | 1027 | 1128 | 24 | 26 |
| ENSDART00000121783 | None | None | 529 | None | 13 |
| ENSDART00000143948 | Missense | 1046 | 1147 | 22 | 24 |
| ENSDART00000146575 | None | None | 126 | None | 5 |
The following transcripts of ENSDARG00000054799 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 22022882)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 22558049 |
| GRCz11 | 1 | 23248788 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGATGGAGATCAGCACATGGGATGGACAGCCGGATCCGTACTCTAAAC[T/G]AGACTCCAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Long Flanking Sequence:
TCTGTATTTATCAGTGAAAACAAATCAGGCTTTTTCATGTATCTGTGGGCATTTATTCCCAGGCGATCTATGCAAGCGTGTTGCCAGGGGAACTGATGCGTGGTTACATGAGTCAGTTCCCAAACTTTCCAAGCTGGTTGGGCAAATTTTCCTCATCGGGCAAACACAGCCGCATCATACAGGAGCTGGCCTCACACATGAGCCTCAAGTGAGCTAACCCAAGAACTTCCTGTCTCACTCTACTCAAACTATGATGTCTCGATAAACCCTAAAATCTTCCTTATTTCACCCCTGCAGGACCTTAAGTAGTAAGGAAGCAGTAAATCTGGATTACCTGCCCTATTTGCGCTCAGCAGTATTAAAACCTCTTCAGTCCCTAGGCTCAGAGGGAGCCAATCAGAGCGTGAAGCTCATGGATGATTATGACATCATTAAAGAGGATGTTGATAACATGATGGAGATCAGCACATGGGATGGACAGCCGGATCCGTACTCTAAAC[T/G]AGACTCCAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGATTTGCTGAGCATATTGTAGAGAAATCCTCCAGGACAAAAAAGCAGTGGTCCAGTTGACAGTTCATTGCTTTGACAGATGCCTGCTCCGTCTGAGTTAATTGTGTTTTAACTGTAAAACATCTGGAGGTGCTCTGCGCCACACTTTATCCCCATCAGCTCCATTTTTTTTTTCTTTTCCCCTTTTCGCAGGTGAAAGCTGCGTTTACAAGAGCCTACAACAAAGAATCTCATCTCACGCCATACTCCTTACAAGTGGTGAAGAAAAGTCGTAAAGGTGCAGTTGACCCTGAGCTTCTAGGAGAGCTTGACAATGAATCTCAGGTGCAGGAAGAGGAAGAAGATGATGGGCTTGGTGCAGATGCAATGATAAAGGTAGATCTCCAAATGGCAATCCAGCAGCTCTTGAGTTTTTCAGGCACATATCAACTGGAGGACAGTCG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11513
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077055 | None | None | 529 | None | 13 |
| ENSDART00000114600 | Nonsense | 1040 | 1128 | 25 | 26 |
| ENSDART00000121783 | None | None | 529 | None | 13 |
| ENSDART00000143948 | Nonsense | 1058 | 1147 | 23 | 24 |
| ENSDART00000146575 | None | None | 126 | None | 5 |
The following transcripts of ENSDARG00000054799 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 22022606)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 22557773 |
| GRCz11 | 1 | 23248512 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTNNNCTTTTCCCCTTTTCGCAGGTGAAAGCTGCGTTTACAAGAGCCTA[C/A]AACAAAGAATCTCATCTCACGCCATACTCCTTACAAGTRGTGAAGAAAAG
Long Flanking Sequence:
TTCCTTATTTCACCCCTGCAGGACCTTAAGTAGTAAGGAAGCAGTAAATCTGGATTACCTGCCCTATTTGCGCTCAGCAGTATTAAAACCTCTTCAGTCCCTAGGCTCAGAGGGAGCCAATCAGAGCGTGAAGCTCATGGATGATTATGACATCATTAAAGAGGATGTTGATAACATGATGGAGATCAGCACATGGGATGGACAGCCGGATCCGTACTCTAAACTAGACTCCAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGATTTGCTGAGCATATTGTAGAGAAATCCTCCAGGACAAAAAAGCAGTGGTCCAGTTGACAGTTCATTGCTTTGACAGATGCCTGCTCCGTCTGAGTTAATTGTGTTTTAACTGTAAAACATCTGGAGGTGCTCTGCGCCACACTTTATCCCCATCAGCTCCATTTTTTTTTTCTTTTCCCCTTTTCGCAGGTGAAAGCTGCGTTTACAAGAGCCTA[C/A]AACAAAGAATCTCATCTCACGCCATACTCCTTACAAGTGGTGAAGAAAAGTCGTAAAGGTGCAGTTGACCCTGAGCTTCTAGGAGAGCTTGACAATGAATCTCAGGTGCAGGAAGAGGAAGAAGATGATGGGCTTGGTGCAGATGCAATGATAAAGGTAGATCTCCAAATGGCAATCCAGCAGCTCTTGAGTTTTTCAGGCACATATCAACTGGAGGACAGTCGTTTAGACAAAAAATGTAAATGTAATGTCAAACACATTGGACTATTGTCCATTTCAAAAAACATTCTTTTGACCAAACAGATATCCATTTGTTGACAATCAGTATTTCCAGGGTGTCCGCGGGGTCTTAAAAAGTCTTAAATCTACTGAAATGTTGTGTTCTAGGTCTTAAATCTTTTTAAACAATTTCTTTTGGTCATGTATAGCCACCCAATCTGGCTATTAACACCCATACAGTCACCAACAATCCCAATCTCTATAAAACTTTTCAACGTTTT
Associated Phenotype:
Not determined