ZMP

ABCC8 (3 of 3)

Ensembl ID:

ENSDARG00000077007

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 are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18215	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa18215

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

A > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000098668	Essential Splice Site	32	562	2	14

Genomic Location (Zv9):

Chromosome 18 (position 48913062)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	50060140
GRCz11	18	50056705

KASP Assay ID:

2261-2657.1 (used for ordering genotyping assays)

KASP Sequence:

CTGAACTGTWGGAAAGYGTTCAGCAGTGTTTTCAGTGTGTGTTTCTCWGT[A/G]GATTATAGCCATGCGGGACGGGACGGKACAGACTCAGGGGACTCTGAAGG

Long Flanking Sequence:

GACACCTCCTGGACACCTACCTATGAAGGTGTTCCAGGCATGTCCCACCGGGAGGAGTTCTGGAGGGATTATGTCTCTCGGCTGGCCTGGGAACGGGATCTCAGGATCCACCCTGAGGAGCTGGAGGAAGTGTCTGGGGAGAAGGAAGTCTGTGGTTCTCTCCTGAGACTGCTGCCCCCGCAACCCGGCCCTGGATAAGCAGTAGAAAATGAATGAGTGAATGCTGCTGTGCTGATTGTTAAAGACCTCAGCCCTCCGCCAGTCTCCCAACTGAGAATCCCAACAGTGCAGCGAAATCCACTTCTCTCAGTGATATCTGTGACAGTTTAGCAGAAACTGAGGAGTTTCTTCTCTCTGATTCGAGACGCTGCATTATTCACTAATGTTTTGTGCATAAATCTAATTGACATCTTTAAATGAAAGCACAGCTATTGACTGACTCCAGTCTGTCTGAACTGTTGGAAAGCGTTCAGCAGTGTTTTCAGTGTGTGTTTCTCTGT[A/G]GATTATAGCCATGCGGGACGGGACGGTACAGACTCAGGGGACTCTGAAGGACATCCAGTGTGCAGAACCGGAGCTGTTTGAGCAGTGGAGAACTCTGATGAACAGACAGGACAAAGTAGGAAGAGCTTACTTTATAATATAATGTCCAAAATGAAATACATTTAAATATTGGTTTATTTTTATGTGTATTTAATTAACTTAATTAACATTTGTATTATTTATAAAACCCTTTTATATAATGATCTTCTAATATAGAACTTATCTGCAGTGTTGTTGGTATTTATCTGCAGGAGAACTCGACTGAACTGAAGAGGAAGAGTTTCAGACGGGCGATGATGTACTCCAGAGATACCGTGGCCACTGATGATGAAGACGAAGGTAAAAACACTGTGCTACTCTATTCGTCATGAGTACACCTGGACACATAAATCATTTAATGAATTTTTTTTTTTATGAATTCAAATGTCAATATTAGGCATATTTAATATTTTTAAATATTT

Associated Phenotype:

Not determined