ZMP
LOC100000526
Ensembl ID:
Human Orthologue:
SEC24A
Human Description:
SEC24 family, member A (S. cerevisiae) [Source:HGNC Symbol;Acc:10703]
Mouse Orthologue:
Sec24a
Mouse Description:
Sec24 related gene family, member A (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1924621]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14962 | Nonsense | Available for shipment | Available now |
sa37388 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa37389 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa14962
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000099278 | Nonsense | 923 | 1097 | 18 | 40 |
Genomic Location (Zv9):
Chromosome 21 (position 44346609)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 45601831 |
GRCz11 | 21 | 45705853 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCGTCCTGCTGCTCCTCCAGAAAGCGTTCGGCACGAGCAGCGCCACA[C/T]GACTGGACGAGCGCATGTTCTGCATGTGTCARCTGAAGCAGCAGCCGCTG
Long Flanking Sequence:
TGGCGCCCGCATGCCTGCGTCTATTCCCGCTCTACATCCTGGCCCTGCTCAAACACGTATGACACACACACTCGCTCGCTCACACATGACATCACACACACCACCTAGGCTTTGGGTAGTGAACTGATGTACAGATCTATTCAAGCTAAAACACAATAATAACTCATCGATTATAAACACATTCAGGCCCAATCCCTGTTAGTTAATGCAGCACACGGGTGATCAACACTCAGTAATGCAGGATGAGCTGCTGTCACGGCTTCACTATCAGTACATGTGATTATAATGGAAGTCAATAGGGCAGAAACAGCAGCAGCGTAACCTAAAGAGAGTCGGTCTGAACAGCACACGAGGAACTGGAACCATTAATGAAACTAAATGAAATGTTCAGCAAATTTAACAGCAGTTTAAAATCAACACTAATGTGAAAGTATGAGAGTGTAATCGTACTGTTCGTCCTGCTGCTCCTCCAGAAAGCGTTCGGCACGAGCAGCGCCACA[C/T]GACTGGACGAGCGCATGTTCTGCATGTGTCAGCTGAAGCAGCAGCCGCTGGCGTACGCCATGCTCAGCATACACCCCAGCCTGTACCGCGTCGATGACCTGACGGACGAGGTCAGTACACACACACACACACACACACACACACACACACAGGGATAGTGCTCATACTTTAGTCCCTGTCAGAAGTCTCCATTTTGGACTCATTGCAGTCTATTCAGGGCGTTTGATCCGCTTTCACTGCAGTGGATTTCTGTTGATTGCAGCGAGTCTGTGCCGGACACATCAGTGTTGGAGAAACTTACATCTGACAGTAATGCGTTACAGTAATGAGGATATTCCCCAACAGAGTAGCTAGTTGTGTTACTTGGTGACTTTCTGTGGTGAATATTGTGTTTTAGGTTACTTTTCCTTCCCTGGCATCAGGCTGGAGCTCGTCAGGGTTTTCTTCTTGTTTGACTAGAGGAGCTCTGCACTGAATAACCTCCACATAACACACATCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37388
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000099278 | Essential Splice Site | None | 1097 | None | 40 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 44367502)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 45580938 |
GRCz11 | 21 | 45726746 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGGTGGGCGGACGGAGCGTGGTGTGTTCAGATGTGGAGCAGCATGTGG[T/G]GAGGGAGCACACACACACACACACACACACACACACACACACACACACAC
Long Flanking Sequence:
TGCAGTATAAAACAATGGAAGCCTATGTAATGTCCCCACAATTCACAAAAACAAATTTGTGTGTGTGTTCAGGTCGGGTCACTAATCTGCGCAGGGTTACATATGTGGTGATCGACGAGGCTGACCGAATGTTCGACATGGGCTTCGAGCCGCAGGTCAGTCACCTGTGTGTGTGTGTGTGTGTATTTGTGCGGGCGTGCGTGTGTGTTTATAATGTTGATTCATGAACACACTCGTGTCCAATCTACTGAAATTTGACTGATCCCTCTGTGTGTCTGTTTCTCTCGCTCACGCTGTCTGTGTATGTGTGTGTCTCTCTGTGTGTGTGCCTCAGGTGATGCGTATCGTGGATAACGTGCGACCCGACCGTCAGACCGTCATGTTCTCCGCCACGTTCCCCCGCACCATGGAGGCTCTGGCCCGCAGGATCCTGTCCAAACCTGTGGAGGTGCAGGTGGGCGGACGGAGCGTGGTGTGTTCAGATGTGGAGCAGCATGTGG[T/G]GAGGGAGCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTGATTGGTTATTTAGCAGCAAATGATTCAGCTATTGTCCGTTTGGTGTGGTCATGTGTAGCTGATTGGTCCAGACAGAACCAGACGTGAGCTGACAGCACAGTTGTGTTTGATCAGTGACCAGCCTTACACACAGAGAAATACAAACCAAACACAAACGCACACAAACGGACACACACTGGGTTCACATCAAACATGGAAATAAGTGTTCACAAGTTACATACAGACATAATAAAATAGACATAATATTTACATACGCACATACATTTATTTATATTTATTTTGTCTGAAAGCTGTCATACGAGTGATCCGCTGATGAATCGCGGCTTTATATGCTCCAGTGTGCCTGTTGTTTTGGTAAACAGCTGTGAGTTCGGTGAACCTTTATGGTCAATCACAGTCATTTCTGTTGAGCTTGTAAACACAACAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37389
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 |
---|---|---|---|---|---|
ENSDART00000099278 | Essential Splice Site | None | 1097 | None | 40 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 44370243)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 45578197 |
GRCz11 | 21 | 45729487 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCGGCGCTCGGCCTGCACGACTCTGATGATGAGGACACCGCGCTCGACG[T/C]GAGTCTCCGTGTGTGTGTGTGTGTGTGTGTGTGGCACTGTCTGTATAACG
Long Flanking Sequence:
TCCTGAAGGCTCTGGAGCTGTCGGGATCGTCCGTCCCCGCGGAGCTCGAGCAGCTCTGGACAAACTTTAAAGAGCAGCAGAAAGCAGTAAGAGAACAGCAGCATCAGCACAGCTCAACACAGAGCACAGCACCACTGATGGAGAGAACACCGTCTGCTTTCTGTTACTCGTTTAAACATGCGCTGCCTAATTAAACATGCGCTCATTTACATACATGCATGCAGGACACGCCTGTAGACGCTGGAGGACAGCATGATGCACTTGACCAGTTTTAGTGAAGGTGTTTACTGATGTGTGTGTGTTTGTTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCGTCAGGAGGGGAAGATCATCAAGAGCAGCAGTGGCTTCTCTGGGAAAGGCTTTAAGTTTGATGAGACTGAGCATGCTCTGGCCAACGAGAGGAAGAAGCTGCAGAAGGCGGCGCTCGGCCTGCACGACTCTGATGATGAGGACACCGCGCTCGACG[T/C]GAGTCTCCGTGTGTGTGTGTGTGTGTGTGTGTGGCACTGTCTGTATAACGGTGTGTGTTTGACTGGGTGTGACTGTCTGTATAATGGAGTCTGTGTGCGTTTGATGGGGTGTGTGTTACACTGTTTCTGTGACTGTCTATATGGTGTGTGTGAGACTGTGTGTCTGACGGTGTGTGTGTGTGTGTGTTCTCTGACAGATCGATGAGCAGATCGAGAGCATGTTTAACTCTAAGAAGCGGGTGAAGGATTTCTCGGCTCCGGGCTCCGTGTCTGCGGGGTCTGCAGGTGGTGTGAGCGGCTCCGTGTCTGCAGTGTCCGGCCTGGGCAGTCTGAGCACTCCGTCTGCCGGAAACATCCAGAAGCTGGAGATCGCCAAGAAGCTGGCGCTCAGGATACAGGCGCAGAAGAACCTCGGTGCAGAGGCGCAGGTCAGAACACACACACACACACACACACACACACACACATGGGCTTTATCTGAAACTACACTCAGCATGTGT
Associated Phenotype:
Not determined