ZMP

mks1

Ensembl ID:

ENSDARG00000059657

ZFIN ID:

ZDB-GENE-030131-3813

Description:

meckel syndrome, type 1 [Source:RefSeq peptide;Acc:NP_001070841]

Human Orthologue:

MKS1

Human Description:

Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:7121]

Mouse Orthologue:

Mks1

Mouse Description:

Meckel syndrome, type 1 Gene [Source:MGI Symbol;Acc:MGI:3584243]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa20540	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa20540

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083134	Essential Splice Site	26	559	1	18

Genomic Location (Zv9):

Chromosome 5 (position 57527920)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	55448519
GRCz11	5	56118736

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGAATCGGTTTACCGTTCCAGGGATGCAGTTAAAAACTTCCGAATACGG[T/G]AAGACACGTCGCCTGTGTGCATGTATAACAAACTGATGTATATATTTTAA

Long Flanking Sequence:

TGCGACATAAGGAAACTAAATAATCGACCGTGTTTAACAAACATGTGGAACAGCTTTCAGTTTGTTGCCAGTGGGTGACAGGAAAAGTAAATGTGTTACCGCTTGCAGATCAGTAGTGAGCACCGGTCATTTATCAGAAGTTCGATCTCAAAGCAGCACAGGCTGATTTGAGAACAGCATATGTTTGCCAGTACTGAGCATGCGTGCATATGGCTTCCGGCCGCTTCCGTTTTAGATTGTTACTATGCAACAAGACGCTCTGATGTGTGGCGTTAACTGTTTTCAGCAGTATTGCATTCACGAGTGAATTATATCAAAACATTTTAAGCTGCCTTAGTCTTGATGTGAGTGTTTTTATAGTAACCGGTGGGAGTTCTACACTATATGTGAAGACTTTTATCTTTTGACGCTGTGTGTCAGATATGGCTGACGGCTGGTGCTCTGACAACGGAGAATCGGTTTACCGTTCCAGGGATGCAGTTAAAAACTTCCGAATACGG[T/G]AAGACACGTCGCCTGTGTGCATGTATAACAAACTGATGTATATATTTTAAAGCATTATGAACTATTTTGGACACGGTACTGTGGTGTTGTTTTGGAAGAGCTGTGAAAATACCACAGTAAATTAAAGGGATAGATAGTTCCCCTAAAACTGAAAACTCTGTCATCATTTACTCGCCCTGCTTTTTTCAAACCTTTTCTTTAAGTTTCTTTATATTGCTGAACACAGTAATTCTTCAAAATAGCTTCTCTTCTATAAAAAAAGAAATACTTGAGGCTGAGTAAATACATTAGAAATTGTATCCCTTTGAAAACTATCCCTTTAAATTTTACTTATTTCTATATTATATCAGAGTAACATTGTATTGCATACATCATTACTCTGTGATTTTGTTTAGTTTAGTTTATTTCTCAGTGTACATTAATCATTCACCTAGAACGTAAATATACTTATATTAACCCAAAGACTAGTTTTCATTATTAAGGTAAAGTTGGTTTTATAT

Associated Phenotype:

Not determined