mipb

Ensembl ID:
ENSDARG00000013963
ZFIN ID:
ZDB-GENE-050706-86
Description:
mip2 protein [Source:RefSeq peptide;Acc:NP_001018356]
Human Orthologue:
MIP
Human Description:
major intrinsic protein of lens fiber [Source:HGNC Symbol;Acc:7103]
Mouse Orthologue:
Mip
Mouse Description:
major intrinsic protein of eye lens fiber Gene [Source:MGI Symbol;Acc:MGI:96990]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa12858 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12858
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023793 Nonsense 204 263 4 4
Genomic Location:
Chromosome 23 (position 6689492)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCTCTGTGRGGCTAAANAAAATYCCTCTTCTTCTGGTSTGATAGGTGTA[C/A]TGGGTGRGTCCGATGWTTGGTGCTGCTATGGGTGCCATCTTCTATGACTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/cu4dq4lk