ZMP

smndc1

Ensembl ID:

ENSDARG00000056235

ZFIN ID:

ZDB-GENE-030131-614

Description:

Survival of motor neuron-related-splicing factor 30 [Source:UniProtKB/Swiss-Prot;Acc:Q7ZV80]

Human Orthologue:

SMNDC1

Human Description:

survival motor neuron domain containing 1 [Source:HGNC Symbol;Acc:16900]

Mouse Orthologue:

Smndc1

Mouse Description:

survival motor neuron domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1923729]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15892	Nonsense	Available for shipment	Available now
sa14965	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa15892

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
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Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031547	Nonsense	95	237	4	6

Genomic Location (Zv9):

Chromosome 17 (position 20071583)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	20221594
GRCz11	17	20241430

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCACCTGCTTACAGTGGTGTGTGATTAACAGGGTGTATGAGGCAGAAATT[G/T]AGGAGATTGACAATGAGAAYGGCACAGCAGCYATCACCTTCGCTGGCTAT

Long Flanking Sequence:

CCATTGCATGGCCACCTGGAGTCAGGACGGACAGTGAGTATCACACAAACACAATGCTGGGAGGTATATAGGGAATTTATGTTGTTAAAGGGACAGTTCACCCCCAGAAAAGAGACGACTACCCTCAAGAGGTTCCAATACTTTTTCTTTAGTTTTATTTCATGTTAAACACTAAAAATGATTTTTAAAGCTGAAAACCGGTAAATAAACACCCGTCACAGTTTGAACAATTACAATGGAAGGCAATGGTTACCGGTTTCCATTATACATCAAAACATCTTCTGTGTTTGACAGAAGAAAAAAAACTCAAGCAGGGTTGAGACAAGTGAAGGGTGAACAAATGATTAGAAAACTTTAATATTTGGACGAGCTGCCCCTTTAAAAGAGCAGAGTGGGATTGTGGCCGGCTGCATTTGGACATGCCAGAGGGGTTGAAGTATACATTTGTACTCACCTGCTTACAGTGGTGTGTGATTAACAGGGTGTATGAGGCAGAAATT[G/T]AGGAGATTGACAATGAGAACGGCACAGCAGCCATCACCTTCGCTGGCTATGGAAACGCTGAGGTGATGCCACTTCACATGCTCAAAAAAGTGGAGGAGGGCCGGATAAGGGACGAGATAGATGGAAAACCCAAATCCAAGTAAGTACATTTTCAAGGTACATGGAAATTACGTTGCATATAATTGAATTACATTGTTGCAAGACAAAGCATGGGTTTAGTTTCAGTCAGAAATTATGAAAAATAAGGTGTTGGTAGTCCCAAGGTATATTAAAAGATCTATGCACATATGCTAGAGTAGGGTTGCACAATATATCGCTTCAGCATCGATATCGCAATGTGATCATTCGCAATAGTCACATCGCGAGTATATGCAATGTTGAGTCTGGATTTTAATCATTTTGCAAGTGTTTTTTTGAGCCCTGTGACTTTGTGAGGGGTTTAAAAACATTCAGGCATAACAAATTGTAACATAACTTTTTTTACAATTTGTTATTTTATT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14965

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000031547	Essential Splice Site	141	237	4	6

Genomic Location (Zv9):

Chromosome 17 (position 20071724)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	20221735
GRCz11	17	20241571

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGGAGGAGGGCCGGATAAGGGACGAGATAGATGGAAAACCCAAATCCAAG[T/C]AAGTACATTTTCAAGKTAMATGGAAATTAMGTTGCATATAATWGAATTAC

Long Flanking Sequence:

TTTTTCTTTAGTTTTATTTCATGTTAAACACTAAAAATGATTTTTAAAGCTGAAAACCGGTAAATAAACACCCGTCACAGTTTGAACAATTACAATGGAAGGCAATGGTTACCGGTTTCCATTATACATCAAAACATCTTCTGTGTTTGACAGAAGAAAAAAAACTCAAGCAGGGTTGAGACAAGTGAAGGGTGAACAAATGATTAGAAAACTTTAATATTTGGACGAGCTGCCCCTTTAAAAGAGCAGAGTGGGATTGTGGCCGGCTGCATTTGGACATGCCAGAGGGGTTGAAGTATACATTTGTACTCACCTGCTTACAGTGGTGTGTGATTAACAGGGTGTATGAGGCAGAAATTGAGGAGATTGACAATGAGAACGGCACAGCAGCCATCACCTTCGCTGGCTATGGAAACGCTGAGGTGATGCCACTTCACATGCTCAAAAAAGTGGAGGAGGGCCGGATAAGGGACGAGATAGATGGAAAACCCAAATCCAAG[T/C]AAGTACATTTTCAAGGTACATGGAAATTACGTTGCATATAATTGAATTACATTGTTGCAAGACAAAGCATGGGTTTAGTTTCAGTCAGAAATTATGAAAAATAAGGTGTTGGTAGTCCCAAGGTATATTAAAAGATCTATGCACATATGCTAGAGTAGGGTTGCACAATATATCGCTTCAGCATCGATATCGCAATGTGATCATTCGCAATAGTCACATCGCGAGTATATGCAATGTTGAGTCTGGATTTTAATCATTTTGCAAGTGTTTTTTTGAGCCCTGTGACTTTGTGAGGGGTTTAAAAACATTCAGGCATAACAAATTGTAACATAACTTTTTTTACAATTTGTTATTTTATTGATTTATTTATAAAATGAAGACTAATACAGTTATTTTACATTTGATAATTCAATCACTGTATACCTGAATACTGGTACACTCCTTGGAAAACAATACAACACTTTATTTAATTACTATCTTTTTCTTTATTGAATTTATCT

Associated Phenotype:

Not determined