ZMP
LOC100334126
Ensembl ID:
Human Orthologue:
SGCZ
Human Description:
sarcoglycan, zeta [Source:HGNC Symbol;Acc:14075]
Mouse Orthologue:
Sgcz
Mouse Description:
sarcoglycan zeta Gene [Source:MGI Symbol;Acc:MGI:2388820]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18691 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa25550 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa38252 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa18691
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 |
---|---|---|---|---|---|
ENSDART00000130418 | Essential Splice Site | 72 | 295 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 14523698)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 15110484 |
GRCz11 | 1 | 15796997 |
KASP Assay ID:
2259-0350.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAATTTAGCGTTGACCATCTGGATTCTAAAAGTCATGAACTTCACTGTGG[T/G]AAGCACTTCTCTGTCTCCTGTTGTTTTCCTCTGTTTATTGTCTATATTTC
Long Flanking Sequence:
GTAACCTAGATTCCCATTAGTATTTCACTGTCAATTAGTCCAACCATGCTTAATTAATAATGCATGAAAAAGCATTGACACGATTCTGTTCCACAAACAGAGATCAAAGAAAAGGTCAATGAAACAGTGCATTTAGTCAACATTTAAAGTGTATTTGTTGAAAACTCATTGGAAAGTTGTTGCTGCTATATCTTCTTTGTCTTCTTCCCCTCAAGCCACCACCACATTTGCATTAAACAAGAAAGACTTGTGAAAACGAAGCAATTTGGAACTAATTTAGTCTCTTTCTGTTCTTTCTCTTTAGATGACTCAGGAGCAGTACATCCTGGCATCTCAGCCGAACCCCCTCCAAAGGCCGGGATGTGCTACTGTGTACCCCGTGGGGATTTATGGCTGGCGAAAGCGCTGTCTGTATTTCTTCATCCTCCTCCTCCTCGTCACAATGATTGTCAATTTAGCGTTGACCATCTGGATTCTAAAAGTCATGAACTTCACTGTGG[T/G]AAGCACTTCTCTGTCTCCTGTTGTTTTCCTCTGTTTATTGTCTATATTTCATGTATTATATCATGCACATTAATGTAAGCATCACTTATACTTACAGTCCCAGACCAATCACATAAGGAAATGTAACTAGTTTACATACTGTTGGAAAGGTAATTTGTACAAATTCATGCTGTACAATTTAATTTGTATGAAAATGTATAAATTTAAAAGAAGGCATGCACTCAAACCCTACCCATAACCTAACCCTACCAGGAAGAAAACTAGCCATGCAAATGATCTAATATTCGAAAAAATTAGCCACTCAATTAAGAAAAAAAATGTTTCGATATTTGTTTTTGAAGACCCATAAAGTGCATTGTTACAGTTTACAAATTTTGTTATCAGAAGAGTAAGGGCTCACTCACCCCTTTGCACCTTTGCTATTTACAATGCGAGGTGCAATGCTTGGTTTGAAAATTGTTTGAAATAAAAAGCTCAACATAAAGCTTTATACATAAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25550
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000130418 | Essential Splice Site | 201 | 295 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 14408778)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 14995564 |
GRCz11 | 1 | 15682077 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTCAGTGGAAACGCCACACGTTCGAGCTGAACCATTCCAAGACCTGAA[G/A]TAAGGCATGCTTTCTTAATGTATCACATTATCATTCAGTGTGTGATTCAC
Long Flanking Sequence:
TTACAACCAAAATACTTGTTTTGTTCTGTATTGTATTTAAAATTATTTAAAAAATTACAAACCCAGACAAGAATGACAAGTAATGCATTCATTTTGAGAAGTGTATTTTATCTATTTTATTTTGTTATGTTATGAGTATTTTATGCAATATGTCAATAATTCTTTAATGGATGCCTTTAGTAAAAAATGATACAAATGTATGAAACTGGACTTATTTTAATGTGAAGGTGAAGAAAAACAAATAAACAAAAAAAAATAATGAAATCAAATTAAATGTATTATATTTTTTACTGTTCTAATATTCAAAAACTGTTTTTGTTTTAGACGCATTTAAACATGCAAATTACAACTTTTGTTTTCTCCAATGCTTCAATTGCAACTCTTATTTGATTTGTCACTCTCTGTGTTTTTCTCTTTACCTCTCTAGGCAACGAGGGAGTTGTGTTTAGTCATTCAGTGGAAACGCCACACGTTCGAGCTGAACCATTCCAAGACCTGAA[G/A]TAAGGCATGCTTTCTTAATGTATCACATTATCATTCAGTGTGTGATTCACACTGAGAGCTGGGGGTAAAAGAGTTCGAGGATGAGAAAAAAAAAAAGAAAGGCACAATGCACAAAAGGATAGAGCAAAGTCATAAAAACGTGAACTTAATGAACGTCCACTTCTTAATTGTCCATAGAAGCTTTATATCCTCGATATTCAGTGACAAACTGCCCCATTGGCACTCTGTTATGAGAAAGAGGACACAACCTCTTTGACACGCCCCATCCATCACTGGAGGATCGGCCAATCAGATTTATCTAATCTCTTCTGTCTGCATTAGTCGATATCTGATTGGATGTCCAATAGGTCACTAACACATCCTGATGCTTTCCACTTCCCCAAACTCCTACATGATCACTGACGGAAATGATGTAGTGCCATGATGGATGGAGTCACTTTAAGTGTAAGTGCGCAGGTTACTGAGGAGAACCGAGCGCTTTTACCGCCCAGTTTTGCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38252
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 |
---|---|---|---|---|---|
ENSDART00000130418 | Nonsense | 277 | 295 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 14350757)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 14937543 |
GRCz11 | 1 | 15624056 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGACCCTTTGCTCGGCCCAGGGACAACGTACCCCAAACAGACTGTGTAC[G/T]AGGTGTGTGTATGTCCCAGTGGCAAGCTGTATCTATCTCCTGCAGAGAGC
Long Flanking Sequence:
ATGTTCCTGAATAAAAGTGAAAGTGCCAAACTGCAGTTAAAGTCGCCAAATTAAAAATGAAACTGCTGGCATTAAATGAAACCCTGGTGGAATTGCGGATAGCATGACGCAATGATGTTAATTGTACTATGTGCTGTAACATGTAAACGGGATTATGAAAGGAACATTCAAAAAGCAATTTATGAAAACACCTTAATCTTATTATTGTCTTATTCAGATTAAGGCAAATCATTGATGTCCAAGTAAACCTAGTCAGTGTTTCATCAGTGTGATGTTTTATGAGTACATGCAGCATAATCCTAAATTACTCTTATAATATTTTGTCATTTGAAGTTTTTGATAATGTTATTGTTTGCGCTCGCTTCCTCACCTCTCCTTGCTTCTCCTCCATTTTCCAGATTTATCTAAATGCAAACTCAATCCGTCTTGGAAATCTTCCACATGGGAGCGTGGACCCTTTGCTCGGCCCAGGGACAACGTACCCCAAACAGACTGTGTAC[G/T]AGGTGTGTGTATGTCCCAGTGGCAAGCTGTATCTATCTCCTGCAGAGAGCTCCTCCACCTGCCAGACCACCAACAGTGTTTGCCTCTGGAGCTGAGGAAGGTGGGTGGGCAGTGGACCACCCAGCACCAGAAAGGCCTTCCTTCACCTGCCCTCTCTCGCTCCTCTCCTTTCTCCTTCACCTTCTCCTTTCTCTTTCATTTCCTAACACAAATTTTTGTTATGCTTTTCCATCTACCTGTCTGAGCTTCCAATTTCTATCTCTATCTATTTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCTATCTA
Associated Phenotype:
Not determined