ZMP

ABCC8 (2 of 3)

Ensembl ID:

ENSDARG00000076973

Description:

ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:HGNC Symbol;Acc:59]

Human Orthologue:

ABCC8

Human Description:

ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:HGNC Symbol;Acc:59]

Mouse Orthologue:

Abcc8

Mouse Description:

ATP-binding cassette, sub-family C (CFTR/MRP), member 8 Gene [Source:MGI Symbol;Acc:MGI:1352629]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa11238	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa11238

Status:

Available for shipment
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Availability:

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Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000088191	Nonsense	156	889	5	26

Genomic Location (Zv9):

Chromosome 18 (position 48933727)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	50082340
GRCz11	18	50078905

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATCTAYTGGACTTTRGCTTTTGTCACCAAAACCATCMAGTTTGTGAAATA[C/A]GATGATCACGGCATCRGCCTCCKGCAGCTGCGGTTCTGCATTACGGGTCT

Long Flanking Sequence:

ATGATCCATTCAGAGTAAATCTCTAGTAAACAACTCACTGATTCAAATGATCTGTTCAGAGTGAGTCTTCTCTAAACAACTCACTGATTCAAATGATCCATTCAGAGTGAGTGTCTAGTAAACAACTCACTGATTTAAATGATTCATTCAGAGTGAGTCTCTAGTAAACAACTCACTGATTCAAATGATCCATTCAGAGTAAATCTCTAGTAAACAACTCACTGAATCAAATGATCCATTCAGAGCGAGTCTATAGTAAACAACTCACTGATTCAAATGATCCATTCAGAGTGAGTCTCCGTGAACTCACTGATTCAAATGATCCATCTAGAGTGAGTCTCCTGTAAACTCACTGATTCAGTTGGTCTGTTATTAGGGTCTCTGCATTTCCTCCAGTGTCTGCTTTGTGTGTTTGCTCCACCATTGCTATTTTCTCCTCCAGCACTGCTGATCTACTGGACTTTGGCTTTTGTCACCAAAACCATCAAGTTTGTGAAATA[C/A]GATGATCACGGCATCGGCCTCCGGCAGCTGCGGTTCTGCATTACGGGTCTGCTGGCGCTGCTGTACGGCCTGATGCTTGGTGTGGAGGTCAACGTCATCCTGCGCAGGGTCAGTGCAAAGTCACATAGAGGATTATAGACATCCATCTGTGCAGAATAATGCAATATAGACAGATTAATGCACACGGTGTTTAATGGAACTCGTCTATAGGTCGAGTGCTCTTGTTAAACTGCTGACCTCAGGAGTGCATTTTCATAATTAAATGGCAAAGTGCAGTGCACAGACATGTAGAAACGGCAACTGTAGTTTTAGAGTTTTAGATGTTCAAATGTGCAAATTACAGACACAAAAGAGAGTAAAAACGTGCTAAATAAATTGATAATTAATAGCAAATAATTAGTTAAACTTCTGATAAACTTTAAAAGTGTAATGAATGTGAAAGAATTTCTTTTTATTTTGAATTTATAATCTTTGATTATAAAATTGTACAGCTGTTGTAA

Associated Phenotype:

Not determined