ZMP

si:ch211-238n5.4

Ensembl ID:

ENSDARG00000062381

ZFIN ID:

ZDB-GENE-050419-80

Description:

Protein LCHN [Source:UniProtKB/Swiss-Prot;Acc:Q1LX49]

Human Orthologue:

KIAA1147

Human Description:

KIAA1147 [Source:HGNC Symbol;Acc:29472]

Mouse Orthologue:

E330009J07Rik

Mouse Description:

RIKEN cDNA E330009J07 gene Gene [Source:MGI Symbol;Acc:MGI:2444256]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa32203	Nonsense	Available for shipment	Available now
sa16749	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa32203

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000077076	Nonsense	366	410	7	9
ENSDART00000090186	Nonsense	366	493	7	11
ENSDART00000141367	Nonsense	366	490	7	9

Genomic Location (Zv9):

Chromosome 18 (position 20325660)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	20555883
GRCz11	18	20544949

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTGTTCTCAGGTACCACAGAGAAGATCTTTGAGGAAAAGAAGGAGCTGTA[T/A]GATGTGTACATTGACAATCAGAACGTGAAGACGCACAGAGAGAGTCTCCA

Long Flanking Sequence:

GTATAATGATTGTTTGTTCTGTAGACAAAAAAAAAAATTTAGCTTAAAGGGGCTAATAATTTTGTCCCAAAAATGGTGTTAAAAAAATAATAACTGCTTTTATTCTAGCAGAAATAAAACAAATAAGACTTTCTCCAGAAGAAAAAATATTATCAGACATAGCACAAGTACACTATGTTTGGTTTAAAGATTAACAAAGAAGAAGCATTAGGAGTCCCTGCAGTTTTCAGTCCAAATAAATGTAGACAATTCCTTTTTGAAAATTAACATATTAAAACAGAGATTTTATCATTTTACAGTCATAATATAAAATAAAAAATGATCTTTTTCTTAAATACTGTTTTATTTTACAGTGAAAATAAAATATAAATGTATGTTTATCAAAAATGTAACTGTAGGTTATTCAAAATGTAACTGTGTATGTAAGATGGCATTTTGAGGTTTTCTTTTGTGTTCTCAGGTACCACAGAGAAGATCTTTGAGGAAAAGAAGGAGCTGTA[T/A]GATGTGTACATTGACAATCAGAACGTGAAGACGCACAGAGAGAGTCTCCAGCCTCTGCTTCGACTCAACAGTGCAGACAGAGAGAAGTATCGCAAGCTCTGTGAGCAAAGGTACCAACATCTGAACCTCTTATGAGAAAGAAAAAACAATAAAAGTATGTATTTCCACAGGCATATGATCATATCAATGGGTTTCAGGCAGTTGCTGCTGTACTCTCAGGAGGTGGATGGAGATTGCACATCCAATGAGGAAGACCTCTTCATTCTGTGAGTGATGAATTAGGATCCTAAATGTAAATGTAAATGTACACACCTGAGCACAGATTATTATAACAGCAGGGAAGTGAAGTGAGCACCTATTAGCACCCTGTGACATTTTCCATACTATTTTCTATATTCTTCCTTGTCATTTGTTTGATATTTGTGAAATCCAAACTAGATTATCTTCAGTTTAGACAAAACGTTAATCAATAACAAATAATATGAATAAAACAAAGAGCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa16749

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000077076	None	None	410	None	9
ENSDART00000090186	Essential Splice Site	None	493	10	11
ENSDART00000141367	None	None	490	None	9

Genomic Location (Zv9):

Chromosome 18 (position 20323876)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	20554099
GRCz11	18	20543165

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CTCCTGACCCCTCTGGACCACACTGATACTGCCAACACCAACAACCCAAG[T/A]CCGTCTACAGGCTTTTTCGCGCAGCCAGTGGCGTCTTTCTGCTTCTCTGT

Long Flanking Sequence:

AAGGTTTTTGTTCTGTTTTTTTTTTTTTTTTTCAGTTGAATAAAATACTTCTTAAAAATAGGTTAAAAATCATTCTCGTGAACCCAATCTTGTGTCTCTTCACACCCTAAATAAGTATGTATTTTCACTCCAGGTTCTTCATGGAGCAGAACAACCGAATCTTCCAGACCCTGTCTGAGGTGGCGGTGAGTGCCGATCCAACCCTGACTGCTGAGCACGTGCGAGCCATGGGGCTGGATCCTCAAGGCGATCGCGGCTTCCTTGTGGACCTGCTGGAAATCTACGGCATCGACGTCATGCTGGTTATCGACAACCCCTGCTGCCCGTAAGACCCTCCGTCTCTGCCCCTCTCTCTGGAGTCCTGTTTTCTGTTCGGGCTTAAATTCACATCCTACTGATCACCTGCTTGTCTTTTCTTTCTTTTCTCTGGCTTGGCTTTCTCAGGAGCCACTCCTGACCCCTCTGGACCACACTGATACTGCCAACACCAACAACCCAAG[T/A]CCGTCTACAGGCTTTTTCGCGCAGCCAGTGGCGTCTTTCTGCTTCTCTGTCTATCTGTGTGCTTTGTATTCTACCAGCCATCTTGGATTTCTTCTCAACTCTGCCTAAGCTTGTTTCCAAACATGATCTCTGTGCCTCTTTATTCCTGCTTTTTCAATCTGTGGTCTTCAGTTGTGACTTTGTTTTTCTAGCCAGTGCTGTTTGGGGGAACTGATGTGATGTCCCCTATGGATATAAATCTGCTTGGACACCAGAGAATTGGAATAACGGTCCATCATTTCCTGGATCTACATGTTTTTTTTGTTTGTTTGCTGGGAACAACGGTTTAACGTCTGCTCTGAATGTCATATATTATGTATTTCTAAAAAGTTTGATGGTTGTTCATATTACACACTACTGTAACGGTGAGGATTTTCACAGTCTTCGCCACAACAATTCAATCATGTACATGTGAGAAGTCATTTCATTTGGGGAAGAACCTGGGCAAAGTCAAAAGTCAG

Associated Phenotype:

Not determined