ZMP
LOC556262
Ensembl ID:
Human Orthologue:
SORCS3
Human Description:
sortilin-related VPS10 domain containing receptor 3 [Source:HGNC Symbol;Acc:16699]
Mouse Orthologue:
Sorcs3
Mouse Description:
sortilin-related VPS10 domain containing receptor 3 Gene [Source:MGI Symbol;Acc:MGI:1913923]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32145 | Nonsense | Available for shipment | Available now |
sa23046 | Essential Splice Site | Available for shipment | Available now |
sa36383 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42908 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32145
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000114236 | Nonsense | 119 | 1018 | 4 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 20211126)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 20361137 |
GRCz11 | 17 | 20380973 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTGTTTCTCTTTTGGCTGTAGCTCTACAGCTCTGTGGACTTCGGGAAG[A/T]AGTGGATTCTTGTTCACGAGCGAGTAACTCCAGGGAGATTTTACTGGTAC
Long Flanking Sequence:
ATCAGAACGATGCTGAGCTATCTGTACGTCTGTCCGACCAATAAGAGAAAGGTGAGTGTCTTCAAAACGCATGAAAGATATGGACGTATAAAACTGTCAGAGAGCAAATATCCAGCTAATAAAACTCATGCTCCCACTCTTTCTTGTCCTCAGATCCTGATTTTATCCGATCCAGAGGTGGAGAGTAGTTTACTTATCAGTTCTGACGAAGGAGCCTCGTTTCAAAAGTTCAATATTAACTTCTACATCATGAGTCTTCTGTTTCACCCTACGCAGGAGAATTGGATACTGGCCTATAGCCACGATCAGAGGGTATACACACACACACAGACATGCTCGCACAGCCTCAAGAGGGCCTGCTGAACAATTAAAAGCAGATAATGTGGATAATTAAGTGCGAGCGAGATAATTACCTTTGTTGGCTGTAGTTAGGGATCTTAAAGTGAATGTGTCTGTTTCTCTTTTGGCTGTAGCTCTACAGCTCTGTGGACTTCGGGAAG[A/T]AGTGGATTCTTGTTCACGAGCGAGTAACTCCAGGGAGATTTTACTGGTACGACACACACATACATACACAATCTTTTTTTTTTTTACTGATCATCAATCTCATATAACACGCCTACAGTGCAATTTCACACTGAAAATTAATCTGACTGCAAGAATACACCTGCACACACACACTCACGCACAATCACATACTGAAAATTAATCCAATATTAAACCCACTCTCTACATCCACTGACACTGATAAACTTACACACACACACAAACACACACACACACTGTCTATGTCTCTTTCCCTTCTTTCTTTCTATCTATCTATCTCGCTGTCATGTCACTTCTCTCTCCCCTGTGCTTCATATTCCCGTACGTGTGGAATTTTGATCAGGTTTTATATTTTAATCCCATCAGTGTGAGTTTGTGTGTTTGTGTGTGGGGTGCATCAGAATAACTGGTTGCCTGTCACATGCTCGATGAGCTGTGGAGACAACACGTCTTCACCTCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23046
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 |
---|---|---|---|---|---|
ENSDART00000114236 | Essential Splice Site | 461 | 1018 | 13 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 20176298)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 20326309 |
GRCz11 | 17 | 20346145 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGTCGACGGGGTTTTGATGACTCCAGAGACTGAGAATCGCATCATTAC[G/T]TAAGAATCATGTTCTCTGCCACACTGATCTCAATGGTCCAGAAGGGGTCA
Long Flanking Sequence:
CGGAAAGGAAGTAGAGTAAAGAGATGCGACACAAAAGCACAACGAAATGCAAAATAGATTGAATGTATAATGAGACTTCATCTGCATTTTACATGACTAATAATGATTAGAGGCTAATGTAAACACAACTGGGGTATGGTGAATAATTTTGTCCTGCTATTTTTCAACGAGCATATCTTAGATTTGATTTTAATGTAATTATGCAGATGCAGCCCACATTAAATGTTAATGCGGTGACTCCGCAACGACTTGTTTTTGTGCATCTGCAAAATATTCTCAGATGACTGAACAAATGCATCTTCTATTTTTATGTCTTTGTCAAATGTGCACAGTACAGTATATAAATCAGACGAGTGCTTTGCCAATGATATGATTTGTGTATGTGTGTGTAGGATTAGTCTGGATGAAGGCCGCCATTGGGACAAACTCAGCTTTTCGTCGACACCCTTATTTGTCGACGGGGTTTTGATGACTCCAGAGACTGAGAATCGCATCATTAC[G/T]TAAGAATCATGTTCTCTGCCACACTGATCTCAATGGTCCAGAAGGGGTCAGTAATGAACCTTCACCTACTGGGATCATTATTATCAGATTAAGTGTTTGCATTTGCATGTCTGGATGATGATCATTAGCACTGCTGTTTTACTAACACTTCCTTCTTATTAGTTCTTTATGGATTTTATGGCGCTAGAAGTCACTTTGTCAACTGTAAAGAATAAAAGTAAACAGATCCTGTTGTTTTCAAGCATCTCTGTCTGTCCTCGTAGATTCTTCGGGCACTTTAGTTACCACTCCGACTGGCAGCTGATAAAGATTGACTACAGCTCCCTGTTTGGGCGGAAATGCACAGACGGAGACTTTCAGACATGGCACCTCCATAACAAGGTTGTCACCTCACATTTTTCAGTAGCGCCTTACTGTTCGCTCTCAACAGCAATGCACTAATTCACTCACTCAACATTCAACATGAGTTTCTTTTGGCACTGAGTTCGCTAGTAATTAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36383
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000114236 | Nonsense | 718 | 1018 | 19 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 20167096)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 20317107 |
GRCz11 | 17 | 20336943 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTAGGTCCCGTGGAGCGTATCTTTCTTTCGGCACCGGTGGTCGTGGCC[A/T]GAGGAAGAGAAGCCAACCTGACAGCAGTGTTGTGGCCCAGTCAGCCCAGG
Long Flanking Sequence:
TCAGTCCTTTATCTCTCTCTGTTATTGTTTTCTCTGCAGGGTGACTCACTGTCGACCAGTCTCCATGTGGACTTTGGAGATGGCATCTCGGTGTCATACTCCAACATAAGCCGCCTTGGTGACAGCATCACACACACATACAGGGTCGCTGGGATATTCAGGGTCAGCGCACGTGCTCAGAACAGCCAGGGCTCTGACAGCAGCTTGCTCTATCTGCACATCACCAGTACGTACATAAGCACACACTTATTCCAATTCTCCATAAGAATCCACCATACAAAAAGCTCTTTCCTGTCACAGCAAATTACCTCTATACCACTGACTGCACATCGAGACAATCTATTTCTGAAGCAGCTCTCAATAAACAACATAGGAAAAGAAATCGCTGCTCAATGTGATCGTTACTGACTTCATATTGCGTCTGATAAGATCTCACGTCCGATGTGTTGTTGTTAGGTCCCGTGGAGCGTATCTTTCTTTCGGCACCGGTGGTCGTGGCC[A/T]GAGGAAGAGAAGCCAACCTGACAGCAGTGTTGTGGCCCAGTCAGCCCAGGACGGCCACCTTCTACTGGTGGTTCAATAACAACACTGAGGTTCGAACATTTATACGCATGCGGCCCAGAGGCCCACATCTGTTAGCCAGCTATTCCAGTATTACTTCTGACCTCCAACAAAACAAGGGCTCGGCCAAAGATATTGTGCTTGCCAAGGCCAGAAAGGTAAACCTGTTATTAGGATGGATTGGAATTGGGGTCAAGTAAGTAAAAAGCTCGATGTTTGGGCCGGGGCGATACTGTGACACTGTGGGGTTTTTTTTTGCTTTGCAGTAAGAAACTTGCTGCCAAAATAAAAAGAATAACTGAATTTCAACTCTGTCAGAATAGCTTTTGTTGAATGACAGGCATAGCTGGGAAAATGCATTGGGGAAAGTGCTTCCAGCTCAGAGATCTGGCATATATTAAAAGCCCACATAGAATTTTAATTGTAGATTGCTTGTCAAAAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42908
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 |
---|---|---|---|---|---|
ENSDART00000114236 | Essential Splice Site | 747 | 1018 | 19 | 27 |
Genomic Location (Zv9):
Chromosome 17 (position 20167005)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 20317016 |
GRCz11 | 17 | 20336852 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGCCCAGGACGGCCACCTTCTACTGGTGGTTCAATAACAACACTGAGG[T/C]TCGAACATTTATACGCATGCGGCCCAGAGGCCCACATCTGTTAGCCAGCT
Long Flanking Sequence:
TGTCATACTCCAACATAAGCCGCCTTGGTGACAGCATCACACACACATACAGGGTCGCTGGGATATTCAGGGTCAGCGCACGTGCTCAGAACAGCCAGGGCTCTGACAGCAGCTTGCTCTATCTGCACATCACCAGTACGTACATAAGCACACACTTATTCCAATTCTCCATAAGAATCCACCATACAAAAAGCTCTTTCCTGTCACAGCAAATTACCTCTATACCACTGACTGCACATCGAGACAATCTATTTCTGAAGCAGCTCTCAATAAACAACATAGGAAAAGAAATCGCTGCTCAATGTGATCGTTACTGACTTCATATTGCGTCTGATAAGATCTCACGTCCGATGTGTTGTTGTTAGGTCCCGTGGAGCGTATCTTTCTTTCGGCACCGGTGGTCGTGGCCAGAGGAAGAGAAGCCAACCTGACAGCAGTGTTGTGGCCCAGTCAGCCCAGGACGGCCACCTTCTACTGGTGGTTCAATAACAACACTGAGG[T/C]TCGAACATTTATACGCATGCGGCCCAGAGGCCCACATCTGTTAGCCAGCTATTCCAGTATTACTTCTGACCTCCAACAAAACAAGGGCTCGGCCAAAGATATTGTGCTTGCCAAGGCCAGAAAGGTAAACCTGTTATTAGGATGGATTGGAATTGGGGTCAAGTAAGTAAAAAGCTCGATGTTTGGGCCGGGGCGATACTGTGACACTGTGGGGTTTTTTTTTGCTTTGCAGTAAGAAACTTGCTGCCAAAATAAAAAGAATAACTGAATTTCAACTCTGTCAGAATAGCTTTTGTTGAATGACAGGCATAGCTGGGAAAATGCATTGGGGAAAGTGCTTCCAGCTCAGAGATCTGGCATATATTAAAAGCCCACATAGAATTTTAATTGTAGATTGCTTGTCAAAAGGTAAGATTTGATTGGGCATTTAGCCTACTTTTCACAAGTTTGGTCACACTGTTTTTTTTTTTTTTAAATGACTTTTATTATGGCTGCTTAGC
Associated Phenotype:
Not determined