ZMP
NP_957420.1
Ensembl ID:
Description:
Rap guanine nucleotide exchange factor (GEF) 1 [Source:RefSeq peptide;Acc:NP_957420]
Human Orthologue:
RAPGEF1
Human Description:
Rap guanine nucleotide exchange factor (GEF) 1 [Source:HGNC Symbol;Acc:4568]
Mouse Orthologue:
Rapgef1
Mouse Description:
Rap guanine nucleotide exchange factor (GEF) 1 Gene [Source:MGI Symbol;Acc:MGI:104580]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32327 | Nonsense | Available for shipment | Available now |
sa18460 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32327
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000015576 | Nonsense | 102 | 684 | 2 | 16 |
ENSDART00000123759 | Nonsense | 127 | 1080 | 3 | 24 |
ENSDART00000127761 | Nonsense | 102 | 684 | 2 | 16 |
ENSDART00000144179 | Nonsense | 103 | 621 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 4423648)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 4001060 |
GRCz11 | 21 | 4165625 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGTTCGGCTAGTAAAGTTTTAGAGGCTATTTTGCCTCTGATGCAGGTC[G/T]AGGCTCGGATACAGCACAGGTGAGTATTCACTGCTAATAAACATCGTATT
Long Flanking Sequence:
GGTCATTTGTGAGTGTGCAATTACCTTGATATGTTTAAGAACGCACACACTATAATCTGCTGTTTTACTCCAAAGAACTCCATATAAAAGTCAGAAACATATTTATACCAGCTTATCTAAAGGGTTAATACTGCCAACTGGTGATCAACAGTAAAAATTATACATTTTACCTCTTCCCAACAGGGAAAACCACCAACAATCAAGAAGAAATGTGGTTATAATGGAAGTCAATGGGGCAAAAAAAGCCACCAACATAACGAAAGGGTTGCCAATTTGAACAGTACACAAGGGTTAAATATAAACACACACAAGCTCTAAATCATGTGCATGTGTTGCCACAGAAGGTGAGTCGACTGGAGGAACAGGAGAAGGATGTGGTCAGCGCTCTGAGATACTTTAAGACGATTGTGGACAAGATGAACGTTGACACCAAAGTTCTCCAGATGCTTCCTGGTTCGGCTAGTAAAGTTTTAGAGGCTATTTTGCCTCTGATGCAGGTC[G/T]AGGCTCGGATACAGCACAGGTGAGTATTCACTGCTAATAAACATCGTATTTTCAGCTTGCACTCATGAGCCGATGTACACTACCTGACAAAGGTCATGTTGTCGATCACAAACCAACAAAAAGTGTGACTAGAAATGTTATTTAATCATAAGCCTAGCATGTATCCTCACTTATTTTTCCTCATATTATTCCCTTTCTCTTGCACCACAGCTCCGCCATGTCCTCCTGTCACAACCGTGTTTATCAGAGCTTGGCGACTCTGATTCGCTGGTCCGACCAGGTGATGCTGGAGGGCATCGACCTCGACGACAAGGACACTGTGACGACTGTTACCACGGTGATCAAAGCTGTGCTGGATGGTGTGAAGGTGAGGGATGAGAAGTGCATTTGTGACGAGGTTAAAACAACACTGGCATATTTATAACCTGTGTGTGTGTATATCTTGGTAACAGGAGCTTGTGAAACTCACTATAGAGAAACATGACCAACCGTCCCCAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18460
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000015576 | Nonsense | 128 | 684 | 3 | 16 |
ENSDART00000123759 | Nonsense | 153 | 1080 | 4 | 24 |
ENSDART00000127761 | Nonsense | 128 | 684 | 3 | 16 |
ENSDART00000144179 | Nonsense | 129 | 621 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 4423919)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 4001331 |
GRCz11 | 21 | 4165896 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCTCCTGTCACAACCGTGTTTATCAGAGCTTGGCGACTCTGATTCGCTG[G/A]TCCGACCAGGTGATGCTGGAGGGYATCGAYCTCGACGACAAGGACACTGT
Long Flanking Sequence:
ATTTGAACAGTACACAAGGGTTAAATATAAACACACACAAGCTCTAAATCATGTGCATGTGTTGCCACAGAAGGTGAGTCGACTGGAGGAACAGGAGAAGGATGTGGTCAGCGCTCTGAGATACTTTAAGACGATTGTGGACAAGATGAACGTTGACACCAAAGTTCTCCAGATGCTTCCTGGTTCGGCTAGTAAAGTTTTAGAGGCTATTTTGCCTCTGATGCAGGTCGAGGCTCGGATACAGCACAGGTGAGTATTCACTGCTAATAAACATCGTATTTTCAGCTTGCACTCATGAGCCGATGTACACTACCTGACAAAGGTCATGTTGTCGATCACAAACCAACAAAAAGTGTGACTAGAAATGTTATTTAATCATAAGCCTAGCATGTATCCTCACTTATTTTTCCTCATATTATTCCCTTTCTCTTGCACCACAGCTCCGCCATGTCCTCCTGTCACAACCGTGTTTATCAGAGCTTGGCGACTCTGATTCGCTG[G/A]TCCGACCAGGTGATGCTGGAGGGCATCGACCTCGACGACAAGGACACTGTGACGACTGTTACCACGGTGATCAAAGCTGTGCTGGATGGTGTGAAGGTGAGGGATGAGAAGTGCATTTGTGACGAGGTTAAAACAACACTGGCATATTTATAACCTGTGTGTGTGTATATCTTGGTAACAGGAGCTTGTGAAACTCACTATAGAGAAACATGACCAACCGTCCCCAACATCCCCCAGCAAACCAGCGCCTCCTGTGGCCAAAACAGAGAGGTACTTTCGTTAAGGCTGATGTGGATTTGTCTGTTTTTGCATTATGGGTACATGTTGTTATGTTATAAAAGGCATCTTTTGAAGGCACAATATTTTATCATTTTGTCCGCCAGAGTAAGGCCCAATCATAATTCTATTTTTGTACCCCTTCCCCTTCCCCTTGGCCCTTACAACCGAGGGTGAAGGGGAAGGGCTTCAAATTTTACCCCTAACGCCTGTTTCACACCGCA
Associated Phenotype:
Not determined