ZMP
nphs1l
Ensembl ID:
ZFIN ID:
Description:
nephrin [Source:RefSeq peptide;Acc:NP_001035777]
Human Orthologue:
NPHS1
Human Description:
nephrosis 1, congenital, Finnish type (nephrin) [Source:HGNC Symbol;Acc:7908]
Mouse Orthologue:
Nphs1
Mouse Description:
nephrosis 1 homolog, nephrin (human) Gene [Source:MGI Symbol;Acc:MGI:1859637]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32057 | Essential Splice Site | Available for shipment | Available now |
sa42603 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa45550 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa6392 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa22702 | Essential Splice Site | Available for shipment | Available now |
sa22701 | Nonsense | Available for shipment | Available now |
sa28513 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32057
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Essential Splice Site | 87 | 1242 | 3 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35909506)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36835928 |
GRCz11 | 15 | 36693897 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATAACAATTGTCCCATGTCCCTTTCTTTCCTCCTCATATTTCCCAAC[A/C]GGCCAGTACCACCTTCAGATTCTAGACGTGACATTAGAAGACGACGGCCC
Long Flanking Sequence:
CTTTGATCTGGTCTATTGAACAGTCTATAATAGTTCCTCAAAATAGCAACGCGCCAGCAATGCACCTCAACCCGCCTCCTTTTATAGACCAGAACGCCTATGGGTGCACATATGAGCGCAAATGCATTTGCTATTTAAACAGCCTTGTGCAAAACGTCAAAACAAATCTTGCTCCAAGCTGAAACTAGCAAACAACAATTGTGTCATGCCTTGCGCCACATTGCGCCGAGTGTATAATAGGGCCCTTAGTATTTTCTGATGCTATTTTATTCAGTAAATGCATTTCCATTCTAATCTTTTGTGCATTTTGTCATATGGGATAAAACATTGATCCAGCTCAGTAGTTTGCATAAATTTTTCATGTGCTTTTTCTAAATTCATGCACATTTTGGCATTTCTATTATGCATTTGTTATTCCAGAATGTGCACGGTCGGAAACACAGCTATAGAAACATAACAATTGTCCCATGTCCCTTTCTTTCCTCCTCATATTTCCCAAC[A/C]GGCCAGTACCACCTTCAGATTCTAGACGTGACATTAGAAGACGACGGCCCCTACGAGTGCCAAGTGGGTCGGTCCGAGAGCAGTCGCCCCATCGTGTCCCGTACAGTCTGGCTCAATGTGCAGAGTAAGCAAACTTTCATCTTTTACCACCGAGCAAAGCTGGCGAGGGTGCAAATGGGGGAAAAAAAAAGAAGCACATGGGACAACTTTAGCCATGACAGATAGCTCAACCAAGGCCGCTAATGGCTGTGCACGCATTGAAAAGGTGACACGCGATGGCAAACCTAAACCTGTCACCATCGCCACATTCAGGGTACTAATGAGCCGAGGAGTTTGTGTGCAGTGTGCTGGAGAATCCCTTGTGCTCGGCTTCAGATAAAGTCCCATTGGTCACAGGTGTATGACAGGGCTGATAGCGCGCATTAGTGATGTGGCCAATTAGTTAGCGCACTTGGCCACCGAGGATAGGGCACTTATAGCGGGCAACATCTGAGGCTTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42603
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Nonsense | 206 | 1242 | 6 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35870468)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36793604 |
GRCz11 | 15 | 36651573 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTCTCTTTCTCTTTTCCAGCATCAGGGCACGAAGCTCGGACGACACG[C/T]GACGCCTGACGTGTCGAGCGAAAAACCCTGCTTCACCTCGAGCTCTGGAG
Long Flanking Sequence:
AACGGCAAAAAAAACGTACCTCCAGGTATGTATTTGGTGCTCTCCAGAAATGTATACTAGGGTACACATCGATAATGAGCCTGGGCTGTTTTATTTTGAGCTTTCTATGCAGCCTAATTTCTTAGAGTGACCCAAATTTTATATATATTTTTTGCCATAAATTTAGCAGCCTCATAAATTTAGTCTGCGGGCAAATAAATCCTGCAATCTGTGTTGAGTTTTTTCAGAAACGGGTGTCTTCTGCGTTTCGCTTTCGCTGCGCTCTTGAATAAGGTATTGCTGACAAATCAAATCCTGGAGGCCAGGTACAGTTAAGTGTACGCTGGCAGCACTCCAGAATGGCAAATGGAGGAAAGTTATGAGCTCAGTGGGTTTGTGGGTAATTGTGGCAACACCAGAGATGAGTGAGTGTCACAGTGTGAAACGCATTAGCGCAAGCCAACCCTGCTCTTTCTCTCTTTCTCTTTTCCAGCATCAGGGCACGAAGCTCGGACGACACG[C/T]GACGCCTGACGTGTCGAGCGAAAAACCCTGCTTCACCTCGAGCTCTGGAGACTGGCATGACCATGAAGGTTTACTGTAAGAATGTTGAATTATGTAGATTCACGCTCAATGTAGTGTTAATGCATAATTCCTCCTAATAATCAATCTTTAATTTTGATGTATGTATTTTTTATGTTTATGTGGTATGTGAAGTGCTAGTGGATCGGGTGTTTAAAATGTCAAAGCAGAGTCGAGTTAAATGGAGCACATGCTGTAAATAATGAAAATCTCCTTGAAGTTGTAGGTTTTCATATACAATGCAGTATACAATGCAGAGTTCATGGCCACTGCGGTGTAGTCATGTGTGCCTTTTTTATTTCAAATAATCATTTGAGTTGTTTTGGTATGAAAAAAATTTGCTTTTTCAGTTTGTGGTGGTACACTTAAAAACAACAAAATTCAGTAAAATGTATGGAAAAAAGATTGACAGCTGTTTTTTTACAGTATTTCACTAATAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45550
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Nonsense | 479 | 1242 | 12 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35839860)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36762996 |
GRCz11 | 15 | 36620965 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATTCTCTGTGTTTTTAAACTCCAGAACAATAAAGTCGTGCTGACCGCAT[C/A]GAAGCAGGTGTCTTCAGAGCGTGGTGTGTCACGAGAGCTGCTTCTCATCC
Long Flanking Sequence:
CTCCACCAAATGTCTTTTTACACTCAGGTTCAACTCTTCGCTTAGTCTGTTTCTCCAGTGGTGGAAATCCTACAGGTCAACTTACCTGGCTAAAGGTGTAGTGGTTCAAGATTTGATTAAGGATAGGCCACTCAAAAAAAAAAAAAAGGAAAATGTAACCATCATTTACTCTCCCTAAAACGTTTTAAACAAATTATAAATTATTTATTCTGTTAAAAAAAACACATAAGAAGACATTTTTAAGAATTTTGGAAACCAGTAGGCATTGACATCCATAATAGTTAAAAAAAAATACTATGGAAGTCAATGGTTACAGGTTTCCAGCATTCTTCAAAATATCTTCTTTTCTGTTCAACAGAAGACAGACAGACTTGGGTTAGTAAATGATCTGTGACTTTTCATTTTGGGTGAACTATCTAATTTAATGGTCTTTTATTTCTGCCATTAAATAATTCTCTGTGTTTTTAAACTCCAGAACAATAAAGTCGTGCTGACCGCAT[C/A]GAAGCAGGTGTCTTCAGAGCGTGGTGTGTCACGAGAGCTGCTTCTCATCCTTCATCCCAGTGACAATTTGGCCACCTACCGCTGTGACTCCTCCAACAAAGCCAAGAAAGTCCTGTCCACCCAAACCAAATTCAGGGTTCTGTGTATGTTTACAACACACCCACAAAAAATAATACATGTTTTAATAATGTAATGTGTTGTTTACATTTGTCACTTGTCAGAGATGTAATGCAGCATGTGATAAAAAAAAAAAGATGAATTTCTGTTTTTCATTTTCGAGACTGTCAAACATTAATAGCATGTCTTGTTAAACAATGAGTTTAATTGGCACAAGATACAAAACTATGAAAGTAATTGCATGGTTGGTTGGTTGTTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTGGTTAGTTAGTTGCATGGTTTGTTGGTTAATTAGTTTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6392
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Nonsense | 680 | 1242 | 16 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35823805)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36746941 |
GRCz11 | 15 | 36604910 |
KASP Assay ID:
554-5229.1 (used for ordering genotyping assays)
KASP Sequence:
GCTGTATCACGTCTCTTGTATGTGTTTGTGACAGAAAGAGATCCTCGTTA[T/G]ACCTTCAGTGACTGGACTCTTGAGATCGTGAACGTGTCTCGGCGGGACGG
Long Flanking Sequence:
AAGTACCTAATGTACCTAATAAAGTGGCCGGTGAGTGTATTTGAATGTGTCTGTCTGTAAAAACCCTGCAGAAAATGGATATGAATCAAACTCTACACTTTTAGTGGATGTTTATGGCTCAGTGCAGGAGGAAATGATTTTTGAGGTTTGAGAAAATGGCCTTTAAAACATGTCTTTTATTTAATAAAATGTGACAAAATGTGTGTTTTGGATGTTTTCTTTTTATTGTAATGAAAATAAAATGCTTAGCGAAAAACCATAAAGATCTAACTATAAAAAATTGCTAGCCCTGGCACATACTAGCAGACCCGTGTTTCTTCCGAAAGTGTAAAACTCATGCACATGTGCAGGGTTTGTGTTTGTTTTAGTGGTCTGGTGTTGTCGCAGCTCTGTGTGATTCCCCTGTTTCGTGTGGGTTGTGTCACGTCTCTGTGTGTGTTTCATGTGGATGCTGTATCACGTCTCTTGTATGTGTTTGTGACAGAAAGAGATCCTCGTTA[T/G]ACCTTCAGTGACTGGACTCTTGAGATCGTGAACGTGTCTCGGCGGGACGGGGGCGATTACATCATCGAGTGCTCCAACGCGGAGGGGAGCAATCGCACCAAACTCAGACTGGATGTACAATGTGAGCAACTCTAAACTATGACGTGTTATCATAGGTTTGATTCATGTGTTATGAATATGTGATTTTTCAAGTGGAAATTATTTTGTTTACAAAAAGTGCACAGAAAAAAAAAAAATATATATATATATTTTAGTTGGAAATATCGCATATATTTATTTCAAAGTATCACATATTAGTGTAAAGTATTAAAAAATGTTTGGCTTTTGTTTTTTTTGTTGTTTTTTTCAAATTAGATATAAAATAACTTGTTGTTGAAAAAGTTATACTGCTTAATATTTTTATTGCGGAAACCATAACAGACTTATATTAATTAATTAAAGGAATTAATAAAACATTCTACTGTTAAAATAATATGCACATTTAGAATATTCATCTTTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22702
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Essential Splice Site | 816 | 1242 | 19 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35806781)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36729917 |
GRCz11 | 15 | 36587886 |
KASP Assay ID:
2260-8857.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACTGGAATCTGTCTAATGAATGAGTTTGAACCTGTTGTGTGTTCTTGCA[G/A]TTGCTCCAGATCTTCAGAAGGGGCCACAGTGGAGGAAAGTGGCCAGTCGA
Long Flanking Sequence:
ACTTCACTGTTTTATGTTCAATTCACTTAAAGTTGGAAAAACAGTTAAGTTAACTTAAGAAGTTTGTGTTGGGACAACATGAAGGAATTGTGTGCAATCAAGCTTTTTAATTTGTTTTTACAAATTTAAGTGGATTAAACAAAATCAATTGAGCTGTCCCCCCAAAAATCAATAATTGTGTTGTTTTAACTCATTTTAAATGAGTGTTATATTGATCTGTGAAATGCATTGGAGACTGTTCTAAATATAGCTTTTTTTGATGCAGGAATGAATTGCATTAATTAATTAATTAATTTATTTATTTATTTGTTTATTTATTTATTCATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGTTTGTTTATTTATTTTATGTTGTATATTATGGATAAATTATTATTATTATTAAATAGTAATATGGTCTGGTCTGGACAACTGGAATCTGTCTAATGAATGAGTTTGAACCTGTTGTGTGTTCTTGCA[G/A]TTGCTCCAGATCTTCAGAAGGGGCCACAGTGGAGGAAAGTGGCCAGTCGAGGGGATGGCAGCAACGATGCTAATGTGGTGTGTCAGGCTCAAGGTGTTCCTCGTGTTCAATTTAGATGGGCCAAAAATGGGTTCCCGCTGGACCTCGGCAACCCCAGGTGATTTGCTCTTGAAGTTTTGTTTTGTTTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGCTCCGTCAATATTGCTAATTTTTTGACAGTATTATCCATGTAAAACAGTAATTGAGGTAATTCAGCTGTAGTTGTAGTAGTAGTTCGTGTTGTAGTTGTAGTAGTTGTGTTTGTTGTTGTAGTTGTTGTTTTAGTAGTTGTAGTACTTGTGTTTGTAGTGGTAGTATTTGTAGTTGTTGTAGTACTTGTAGTAGTTGTTTTTGTAATAGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22701
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Nonsense | 949 | 1242 | 21 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35798809)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36721945 |
GRCz11 | 15 | 36579914 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGACCAGACCTCCGTTACTCTGGAGTGGATGCCTGGATTTGACGGTGGTT[T/A]GACACAGATCTTCCGTGTCAGGTGAAGCTGTCATAAATGCCGCTGTGAGG
Long Flanking Sequence:
AACATGCCTCAGAGATTTTGGGTCATATTGACGTGATAGCATCACGCGGTTGCTGCAGATTTGTTGTCTGCACATCCATGATGCCAATCTCTCGTTCCACCACAACACAAAGGTGTTCCATTGGATTGTGATCTGGTGACTGTGGAGGCCCTTTGAGTACAGTGCCTGTTTTAGCTGACAAGAGTGGCACCCGGTTCGGTCTTCTGCTGCTGTAGCCCATCTGTTTTAAGGTTGGACATGTTGTGCATTCAGAGATGCTTTTCTGCAGACCTCGATTGTAACGAGTGGTTATTTGAGTTACTGTTGTCTTTCTATCAGCAGGAAGCAGTCTGGTCATGTTGTGGCCCTGTTGTGAACGGCCCTTTAGGCACTAGTTGTTGTTAAATGCTCTGTGTTTCTCTGTCTCTCAGACCACCCTGATCCGCCATCAGACCTGAAGCTGCTCCGTGTCGACCAGACCTCCGTTACTCTGGAGTGGATGCCTGGATTTGACGGTGGTT[T/A]GACACAGATCTTCCGTGTCAGGTGAAGCTGTCATAAATGCCGCTGTGAGGTGTCTGAAACATGTGGTGTGTGTTGTTGGTGTGTTATATCAATCAGTCTGGAGTGTGTCAACAGTGCTGCACACCTTTCACTTTGACTGATGTATAAACATTACTTTCTATGTAAATGAAGTGTGATGTGATTACCTCATAGTAAATGCAGCTGTGTTTATTTTTGTATTGTAAATGAGGCATGTTTTGTCCAAATGTTTGGCATCAGGTTTGAAAGTGTGGGATTCAATATGTGAGGAGTGCAAACATACAACCAAGGATTACAATTAGCTATTAAGAGTTTTACAATGTAATGTAAATTTACAATTTGCAAGCATTGAAAAACATGGCAAAAAATTATATAAAAAAGAAACAATATAAAAGAAAAACTCCAGTTGCAGTAATTTTAATTCACAATTTATTGTTAGATTATGTTAGCCCAAGCCCATTTTATTATAATATAAGCTGTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa28513
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085971 | Nonsense | 1030 | 1242 | 23 | 29 |
Genomic Location (Zv9):
Chromosome 15 (position 35789127)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 36712263 |
GRCz11 | 15 | 36570232 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGCTCTCAGATGCGAAGGAAGCTGACGGCGGGGTCTCCACAGCGGAC[C/T]AGGACTCGGCTCTTGCAGGTGCTGCATTTCTTCCTCCGGCTCACTGCAGC
Long Flanking Sequence:
GTGAGTGAGATGCTAATGGTCTAATCCGATTCAATTATTTATGCTAAGCTAAGCTAAAAGTGTTATTGCCAGACCAGGAGATCAGCTGAATGAATAAAAAAATGGTAAAACTCATCTTTATAACTCTAAGCAACTTGTAAAATTAAGCATATCTAAAATAAATATATTAAAAATGTGGAGTGTTTATCTAAGATCACATCAATGTTAAAACCTCACTTTTAGCTTTTCCTGTAGCTTTCAAATGATTCTCAATTGCCGTTATCCATTAACTTGTGTTATACGAATGTCCAAACATTCCATTTTTTACCTTAAGCTCTATCTAACCGTAGCATCAGTGCTTCAAAAGTCCCTGTTATTTTTTTTGATGTTCTGATTTTAGACTCACGGTCAGAGCAGAACAAAGTGACTGCACTCTGTAACCCCTGCGTTTTAGTGATTTACCTCTCTCTGTTTTGCTCTCAGATGCGAAGGAAGCTGACGGCGGGGTCTCCACAGCGGAC[C/T]AGGACTCGGCTCTTGCAGGTGCTGCATTTCTTCCTCCGGCTCACTGCAGCTGCTATTTATCAAATGTAGAAAAGGCCTGACACCCCAGAATTCAGATCAATTTCTCAGCTCGTACTTCAGCTTTCCATGGCCTTTACCGGCCCGTTTCATGTGCTTTCATAAAGCCTTGGGGCTCAATGTTTTCCCCGCTGCGGTTTGGTGCAGTTTTGCTCAGGCTATAATCCTGAACGCTTTGGTGCTGTTTAATGGGACACAGTGGCAGTTATTGACCCTTGGTTCGGGATAGAGAATAAACTGACATTAGCTCGCGGCGAATTCGAGGTCCGCCAGATACTGCTTTGCATTTTGATTGGGTTTGTGTAGAAAAGATTCATTAGGGTTTTCAATTTCCTCGGATAGTTCCAATGTCATCAGTTTGATTTGGGAATGATACACTGTGTGAGGGATTTTTCCTTTTTTTTTTTCAGAGAGAGATTCATCAATGTCTCTCGTCTGTGTGA
Associated Phenotype:
Not determined