ZMP

samm50

Ensembl ID:

ENSDARG00000045814

ZFIN ID:

ZDB-GENE-040426-806

Description:

Sorting and assembly machinery component 50 homolog A [Source:UniProtKB/Swiss-Prot;Acc:Q803G5]

Human Orthologue:

SAMM50

Human Description:

sorting and assembly machinery component 50 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:24276]

Mouse Orthologue:

Samm50

Mouse Description:

sorting and assembly machinery component 50 homolog (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa11533	Essential Splice Site	Available for shipment	Available now
sa24653	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa11533

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104420	Essential Splice Site	143	469	5	15

Genomic Location (Zv9):

Chromosome 25 (position 19503763)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	18915740
GRCz11	25	19013691

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AATGACAGGAAGTTACAACACCATGGTTGGGAACAAYGAGGGCAGCATGG[T/C]GAGATCCTGAAGACGYCTGTGTGTGTTTGTKATGAWGAGGAATCACARAG

Long Flanking Sequence:

AGGTTTAACTGCACAGCACTTACTAGCTGGCCTCTGTTACATACAGTATATACATTTTAAAAGATATCATATCATTTATTTAGGATTCTTACGGGTGTTGAAAATGCTTGAATTTTAATGCAAAAATCACTTTAATAGGAGGTTTCAGCACAGTTGTGTGGGTAAAGTGTGTTAACATAGCCAGCATCTATTGGCAAAAATTAATTAATTCTATTTTTTACAATCACACTTGATAAAAACAGTTTTCCCTTTGTACATGTCATCAGCGCGGTAAAGCCCCGGCCATTCGTTAAATACATACATTTATTGTACAAACATAAATGAATAAATACTCCAGTATTGTGACAGCATTAATGTAACTGATGACAGTCTGTATGTCCTCATATGCTCAGGTGCAGACGCGCTGCCCAACGGCCTGGACGTGACATTTGAGGTAAAGGAGCTCAGAAGAATGACAGGAAGTTACAACACCATGGTTGGGAACAACGAGGGCAGCATGG[T/C]GAGATCCTGAAGACGTCTGTGTGTGTTTGTGATGATGAGGAATCACAGAGACACTCAAGTGCTGATTTCTTTCAGGTCCTGGGGATCAAACTGCCCAATGTGCTTGGCCGTGCTGAGAAGCTGACCTTTCAGTTCTCTTATGGGACAAAGGAGACCTCGTATGGCCTGTCATTCTTCAAGCCGCAGCCGGGACACTTTGAGCGCAAGTATGATTTTAGCATGGCAGTGTAGAGTTCATGTTGTTATTGTTCTACTTCTATTTTATGTGTATATTTTGTATATTTTTTTACGTAGTTAAATTCGGTTATTAGCATTTTTAATGTTCATCATCACAAAATATTGAATGATTGAATGGTGAGATGATTAAATATCATCAACTGTATTGTTGGAAATCCTTTTTATCTTCCAGCTTTTCCCTGAACTTGTACAAAGTGACTGGTCAGTTTCCCTGGAGCTCCCTCAGAGAAACAGACAGAGGAGTCTCCGCTGAGATCAGTGTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24653

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

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104420	Nonsense	465	469	15	15

Genomic Location (Zv9):

Chromosome 25 (position 19511609)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	18923586
GRCz11	25	19021537

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTTTTGTTTTTTCTGTCTCAGGATATGTGACGGAGTGCAGTTTGGGGCC[G/T]GAATCCGCTTCCTGTGATTTTTCGACTATCGTGTCACTTTCTAACCTGTG

Long Flanking Sequence:

ACTGCATTCCTATGGGCGTCCAGAGTGGAGACAGGTACACGCACTCACAAATACACATTTTTAAAGTCCCCCTAAAAGCTAAAGCAGTCTGTTCGGTTTATTCAGGTTATCTAATGCAGTGTTTCCCAACCCTGTTCCTGGAGGCACACCAACAGTACATATTTTGTATGTCTCCCTTATCTGACCCAGGCTTTGGAGTCTCTAATGTTCTGCTGAGTTGATTCAGGCTAGTTTGATTAGGTAGAGGATGAAGCTGTGTACTGTTGGTGTGCCTTTAGGAACAGGGTTGGGACACACTGATCTAATGCAAGTTTGCTACAAAACTAAATAGGAATTTACTTACAGTTTCTCGCTTCCACCAGTAAGAATATATATTTTTTATAACATCACTCTGCACCAGATTGTCGACAGTTTTTTTTTTTTTTTTTTTTGACCACTCAAATGCTGATGTGTTTTGTTTTTTCTGTCTCAGGATATGTGACGGAGTGCAGTTTGGGGCC[G/T]GAATCCGCTTCCTGTGATTTTTCGACTATCGTGTCACTTTCTAACCTGTGATTAAAGGATGTTCATACAAATTCCATTTCCAATGCAAAGTAATGCAGTAAATGTTGACTGATTTTTCAGTGTTGACAAACATGCTAAAAAAAGAAAACGGTATAAAACCAACAATGTTTGTTAGGATCTGTCACCCTTTTTAAAATTCATTGGCACTTGAGTGAGGAATATATATTGGACATCAGTGCTCTTATTGTCATATTTATTTGTCAATAAACAATGTCTCTAGCCTCAATTGTGTTTTCATATATTTAAAGAAAAATAATCTGTAAGTATATACAAACTCACACGTATTTGAATATCTGATTTATATAGTAGTATACGCATATATGCTGTATATATATGTGTGTTGTTTTTGTAACTGCAAAAAATGGTTTTATTTAATTATAATAAAATTATAAGTTTAAATTATTTGAACATAATTATTAAAATACATTTCAAAAGGGCAG

Associated Phenotype:

Not determined