ZMP
ENSDARG00000077141
Ensembl ID:
Human Orthologues:
CNTN1, CNTN2, CNTN5
Human Descriptions:
contactin 1 [Source:HGNC Symbol;Acc:2171]
contactin 2 (axonal) [Source:HGNC Symbol;Acc:2172]
contactin 5 [Source:HGNC Symbol;Acc:2175]
contactin 2 (axonal) [Source:HGNC Symbol;Acc:2172]
contactin 5 [Source:HGNC Symbol;Acc:2175]
Mouse Orthologues:
Cntn1, Cntn2, Cntn5
Mouse Descriptions:
contactin 1 Gene [Source:MGI Symbol;Acc:MGI:105980]
contactin 2 Gene [Source:MGI Symbol;Acc:MGI:104518]
contactin 5 Gene [Source:MGI Symbol;Acc:MGI:3042287]
contactin 2 Gene [Source:MGI Symbol;Acc:MGI:104518]
contactin 5 Gene [Source:MGI Symbol;Acc:MGI:3042287]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa26816 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa10948 | Nonsense | Available for shipment | Available now |
sa20800 | Nonsense | Available for shipment | Available now |
sa13744 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa26816
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 |
---|---|---|---|---|---|
ENSDART00000075481 | Nonsense | 144 | 1015 | 4 | 23 |
Genomic Location (Zv9):
Chromosome 6 (position 45242272)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 45397452 |
GRCz11 | 6 | 45303246 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGGGAAGGACAGTCTGTTGTGCTGCTGTGTGGTCCGCCGGCCCACTTC[G/T]GAGGTATTTTCATTGTTGTTCCTAATTCATTTGAATGTTATTTCCCTGCA
Long Flanking Sequence:
CATGTCATAACCAAGTTACAGTGACAGCCACCTCAAGAGAAATCCAGTGTTGCTGACTTTTTGTATAGCTAAAATTACCTCAAATCTCACCTCCTTCAGAATTATTTTTTCTCACTTTAACCATAAACCTCACTTATTTTCAATATATGTGCTTTCCCATTGTCATTTGATTGCCCAAACCACATGACGTTCCACAGAGGCCTGCATTTATGAGGCAGGAGGACTGATATTTGAATAAACAGCTCAGCTTTAGCCCAGTGTGGGATGTCATTTCTGCCTGTCCCTTTCTGTGCTATAGAGTGGCATTTCTAAAGGTCCCTGCTCTGTGAGTCGTCTGTTGCATGTCAGAGCAATGACACCGCCTTTAATGAAAAGTAATGGCGATCCTATTATTTTGTTTTTCTGCAGACCTGCAGAATTTCAGCATCAGGGCCAGAAGTCCAGTGTCAGTGAGGGAAGGACAGTCTGTTGTGCTGCTGTGTGGTCCGCCGGCCCACTTC[G/T]GAGGTATTTTCATTGTTGTTCCTAATTCATTTGAATGTTATTTCCCTGCAGGTGTCTGCTATTCTTTGAAGTTATCACTGCTTTTCCACTTTACTTTGATGAATAGCAATTTTCATACAAAGCAGGACTGACAATCTTTTGGAAAACCTGTTGACCTGTTTCTGCAGTGTGTTTTTGATCAGTGCAAGCGTTGTGAAGCAAATCAAGGTCAGGAATTCACTATTAGTAATGTGAAAGGAAACCTTATCGTGCAATGCTCACTTGTAATGTGTTGTATATGGAAGTTAATTATTGACAAATGTTTTTGAAAAAAAAATTTCTTGAATTGCTCAAAACGAAAAAAAAAATCGAGTAAAAAAAAAGAGTGCTTGTACTTTAAAAGCATTGTATTTTCATGCTTTGCATGTTTAGGCTTTGTAATTCAACAAGGCTGTGTATACAAGCACTTAATATTTCAAATGAAAACATTTCAGGTGACAACATTCTAAAGACGATGGACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10948
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 |
---|---|---|---|---|---|
ENSDART00000075481 | Nonsense | 720 | 1015 | 18 | 23 |
Genomic Location (Zv9):
Chromosome 6 (position 45285746)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 44950981 |
GRCz11 | 6 | 45354030 |
KASP Assay ID:
2259-8041.1 (used for ordering genotyping assays)
KASP Sequence:
TGATGTGTTCRATTCTCWTCCTCTTTTCACAGCCTGTGCCCGAGGAGCTA[C/T]AAAATGGAGAAAAGTTTGGATATGTGGTGGCATTTCGTCCGCTTGGCACT
Long Flanking Sequence:
CTGAATGCAGTTAATTCTAAATTGAAAGATTGGTATTGTGCTGTCTGAAGATTAATATAAACATGCCATTGTTTACCATTTTGACCAACTGTCATTTTATGCAAATATGCTGATTAATTTAAGAACAAAAAAAGAAAGAAAGAAAAAAATAAAGCTCTCTGCAACTCACATGCTCGCCCACTGAAGCTAAGCAGGGCTTTGGTCGGTCAATACCTATGTGGGAGACCACATGAGAGGTTGCTGCTGGAAGTGGTGTCAGTGAGATTCAGTAAAAAATCCCAGGATGTCTTTCAAAAAAAAAAAAAAAAAAAGATTAGGGACAGGTGGATGCTGCACACTTGTGATGTGTCCCCAACAACAACAAAAAAATGTGTGAATTGCTTTGATTGTCCTGACAAAGCACTATATAAATGTAAGGAATTATTTATTTTTATTTTTATAATTAGTAAGTGATGTGTTCGATTCTCATCCTCTTTTCACAGCCTGTGCCCGAGGAGCTA[C/T]AAAATGGAGAAAAGTTTGGATATGTGGTGGCATTTCGTCCGCTTGGCACTACCACCTGGAAACAAAGCGTTCTGGCCTCAGCCGATTCATCACGATACGTTTATAAAAACGATACTTTCCCACCCCTCACTCAGTTTGAAGTAAAAGTTGGCGTCTACAACGACATCGGAGAGGGGCCGTTTAGCCCCACGGCCCTGGTATATTCAGCAGATGAAGGTTAATAAGCTTGTCTTTTGTGTTGATTGTATGCAAATTGGAAAAGGACATTATTGGACATCGTTTAAGAATGACAAAAGCTGATGGATGCGGTGCAAGTTTTAATTACACTCCCTCTACAGCTGTGTTAGTGCACTTTGATGGTAATTTCTTTATCCGCAAGTATGTGCAATTAGTTTTTTTTACAAACAGGTGGCAGATTTAATGCAAGACACTGCAGGTGAATAGGGTGATGAAAAATAATTAATAGTCATCACCATACTTTCACAGCTGTTTGGTTTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20800
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 |
---|---|---|---|---|---|
ENSDART00000075481 | Nonsense | 726 | 1015 | 18 | 23 |
Genomic Location (Zv9):
Chromosome 6 (position 45285764)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 44950999 |
GRCz11 | 6 | 45354048 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTCTTTTCACAGCCTGTGCCCGAGGAGCTACAAAATGGAGAAAAGTTT[G/T]GATATGTGGTGGCATTTCGTCCGCTTGGCACTACCACCTGGAAACAAAGC
Long Flanking Sequence:
AAATTGAAAGATTGGTATTGTGCTGTCTGAAGATTAATATAAACATGCCATTGTTTACCATTTTGACCAACTGTCATTTTATGCAAATATGCTGATTAATTTAAGAACAAAAAAAGAAAGAAAGAAAAAAATAAAGCTCTCTGCAACTCACATGCTCGCCCACTGAAGCTAAGCAGGGCTTTGGTCGGTCAATACCTATGTGGGAGACCACATGAGAGGTTGCTGCTGGAAGTGGTGTCAGTGAGATTCAGTAAAAAATCCCAGGATGTCTTTCAAAAAAAAAAAAAAAAAAAGATTAGGGACAGGTGGATGCTGCACACTTGTGATGTGTCCCCAACAACAACAAAAAAATGTGTGAATTGCTTTGATTGTCCTGACAAAGCACTATATAAATGTAAGGAATTATTTATTTTTATTTTTATAATTAGTAAGTGATGTGTTCGATTCTCATCCTCTTTTCACAGCCTGTGCCCGAGGAGCTACAAAATGGAGAAAAGTTT[G/T]GATATGTGGTGGCATTTCGTCCGCTTGGCACTACCACCTGGAAACAAAGCGTTCTGGCCTCAGCCGATTCATCACGATACGTTTATAAAAACGATACTTTCCCACCCCTCACTCAGTTTGAAGTAAAAGTTGGCGTCTACAACGACATCGGAGAGGGGCCGTTTAGCCCCACGGCCCTGGTATATTCAGCAGATGAAGGTTAATAAGCTTGTCTTTTGTGTTGATTGTATGCAAATTGGAAAAGGACATTATTGGACATCGTTTAAGAATGACAAAAGCTGATGGATGCGGTGCAAGTTTTAATTACACTCCCTCTACAGCTGTGTTAGTGCACTTTGATGGTAATTTCTTTATCCGCAAGTATGTGCAATTAGTTTTTTTTACAAACAGGTGGCAGATTTAATGCAAGACACTGCAGGTGAATAGGGTGATGAAAAATAATTAATAGTCATCACCATACTTTCACAGCTGTTTGGTTTACATTAAGAGTTGCAATCATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13744
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000075481 | Essential Splice Site | 891 | 1015 | 21 | 23 |
Genomic Location (Zv9):
Chromosome 6 (position 45297816)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 44963051 |
GRCz11 | 6 | 45365381 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTCATAGAACTCATTTTTGAAGTAAACGAGAATATGATTTATGTCTTTT[A/G]GCTCCRAGTCAGCCCCCAGGGAACATYRAGTGGAACCTGACGAACTCAAA
Long Flanking Sequence:
AAATTGGACAATTTATCATTGGAGTTAGTGGAAGTCCTGGGGCCAGCCCCCTAAGGCGAGTCGATGAATTGCAGTTTTAAGTTACTTCCGTATTGGCTTCACGAGGGATAGTGGGAGGTTGCCACTTTGTTAAAAGTAGTCTAATTCTATGGAAAAACTGTAGACTTGGCAACCCTAGTTATACCAACCTTAATTTTATCTTTGTATTGACCCTTAGTGTTTGTTTCTAAAAAAATGACAGTGTGAACGCTAAGGGAATCAGGACTAATTGTATTATTTGAGTACCAAACAATACCATTACTAACAGGCTTAAAAGTTAAAGCTAAGTTGAATTGAATCTGTGCCACTGACTGTGGAAGTCTTCAAATACACAGTAAGTGATACTTAAACTACTGTAGAGCTAATTGTAAAGATTGGACATGAAAAAAATATACCCTGGATCCGATGTTCAGTCATAGAACTCATTTTTGAAGTAAACGAGAATATGATTTATGTCTTTT[A/G]GCTCCAAGTCAGCCCCCAGGGAACATCGAGTGGAACCTGACGAACTCAAAGGTGTTTCTGAACTGGGAACATGTGAAGGCGATGGACAATGAATCAGAAGTAACCGGCTACAAGGTAATCTGTTTTTTGGCTCTCGCTCTTCTGCTGCTTTGCTGATAAACATGCTGTATCAGTGTGCCACATAAGCTGCTGTTTCACAAAAAAACAACTCTGAGATAAATGACTGAGAATGTTACCTTTGAACGATACATTATATACAGTACAGTTTTTTCATTTCATTTAATTTCTTTCTTTTTTTTTCTGTTTTGAAGTGCAAGTGAAGCCTTTCCAGATATGCTCAAGCAGCTTCCTTTGAACTTCTTAGTATAAATGCAAATCATTTTTGGATAGCACTATATTTAATTATAGAAGTAGATTATATGTAGTTTTTTAGTTAGTAAATTAATTTTGCATACCTTATTTATCACAACTATTACAGGCATTACAATTACATATATATA
Associated Phenotype:
Not determined