ZMP

cirh1a

Ensembl ID:

ENSDARG00000017675

ZFIN ID:

ZDB-GENE-040426-2466

Description:

cirhin [Source:RefSeq peptide;Acc:NP_998447]

Human Orthologue:

CIRH1A

Human Description:

cirrhosis, autosomal recessive 1A (cirhin) [Source:HGNC Symbol;Acc:1983]

Mouse Orthologue:

Cirh1a

Mouse Description:

cirrhosis, autosomal recessive 1A (human) Gene [Source:MGI Symbol;Acc:MGI:1096573]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa23255	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa23255

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000010821	Essential Splice Site	116	685	3	17

Genomic Location (Zv9):

Chromosome 18 (position 14207681)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	14653099
GRCz11	18	14621611

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGGGCCAATCTGGGCCATAACAGGCAATCAACAAGGAACACACTTGGCGG[T/C]AAGTTTGGTTTGTTTACTACGATCATGTATTCAATAATTCAAAAACATTA

Long Flanking Sequence:

GAAGAAAGAAACTCAAACTGGTTTGGAACTAGTGAAGGGAGAGTAAATGATGACAGAATTTTAGTTTTTGAGTGAACTATCCTTTTATGTTCTGGACACCAAAGCCATATTGATTTAAAAAAATGTGACTTTTATATTTAGAAACTTAGACTTTACTATAGCATTTTCATACTGTTACTCTGATGATTTGAAGTGCTTTTTTTTTAATCCTCACTTGTAAGTCGCTTTCGATAAAAGGATCTGCTAAATGAGTGAATGTAAAAGTTTTTTGACCAACAGTTTGTTAAAGGTGTGTTTCCTTTGTCCACAGATCATCCCGGGCAGAGAGCAGGCTGGGATTGAAGGCCTTACCTGGGTTGGGGAGCGTCTGTTTAGTGCAGGACTGAATGGTGTGATAACAGAGTATGATCTTACAAACCAGAGGGTGAAATACACCATAGATGCGTATGGAGGGCCAATCTGGGCCATAACAGGCAATCAACAAGGAACACACTTGGCGG[T/C]AAGTTTGGTTTGTTTACTACGATCATGTATTCAATAATTCAAAAACATTAGACCCCATCTTCTGTGACACTTAATGTATGAATTCCATTGTATTACATAATGAATTTTGCTGACAGTTATTGAACTAATTTAAATCTGCAGTGGATTTACTCATGTTGAACAGCACTGTTGTCACTTGTAGGGCTAGTTATAGTAAAACTGACCAATTTTTGTACTTTTAAAGGGATAATTTCCCAAAAAGATAAAAATTCTGTCATAATTTACATTTTACTCGTAACAAACCACTTTTACTTTCTTTTGTTGAACACAAAAAGCTATTTTTAGGGAAGCTGGAAGCCTTTAACCATTGAACTCATAGGATTGTTTTTTTTCCTACTATGGAAGTCTGTGGTTACTGGCTTTCAGAATTTTTGTAAATATATTTTGTGTTCAACAGAATAAAGAAACGTATAAAAGTTTGTAATCACTTGAGCGTGAGTAAATTCAATTTTTTGGGTGAG

Associated Phenotype:

Not determined