ZMP

chm

Ensembl ID:

ENSDARG00000003845

ZFIN ID:

ZDB-GENE-030318-2

Description:

choroideremia [Source:RefSeq peptide;Acc:NP_982286]

Human Orthologues:

CHM, CHML

Human Descriptions:

choroideremia (Rab escort protein 1) [Source:HGNC Symbol;Acc:1940]
choroideremia-like (Rab escort protein 2) [Source:HGNC Symbol;Acc:1941]

Mouse Orthologues:

Chm, Chml

Mouse Descriptions:

choroideremia-like Gene [Source:MGI Symbol;Acc:MGI:101913]
choroidermia Gene [Source:MGI Symbol;Acc:MGI:892979]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6679	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa23994	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa6679

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000005479	Essential Splice Site	108	666	4	15

Genomic Location (Zv9):

Chromosome 21 (position 33676966)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	34676659
GRCz11	21	34711149

KASP Assay ID:

554-5232.1 (used for ordering genotyping assays)

KASP Sequence:

AACTCTGTCGATTCTTCTATTTCCAACTTAGAAGTTTTCTGTTATGCCAG[G/A]TTAGGAYTAATTWTGTTTTGCTTACAGTTTGCACAAGTCAAAAACAGGTC

Long Flanking Sequence:

TTATTTGATGTATTTTTGTTTTGTATTTTCAAGTAAAGATTCCCAATGACTATGAAATGATATCTGTGGAAACCGATGCACACAAAGACTTTAGTGATGTTTAGTGAATTAATTATTAATTTTTATTTACAGGAGGAACTATTACGCTGGAAACTGGGCAAGCTTCACTTTTAATGGCCTGCTGTCGTGGATTGAGGAATATAAGGTTTTTATATTATATGTTTCTAGACTATGAGCATTGCACCAATATAACTTAATAATATAATTTTAAAATTCTTTCATTTTTTTTTAAACCATGTGTATTATTATTTGTTATTATTATTTTTTGTTGTTGCTAATGTGTGGTTTTGTTTACTATTGTGTGTTCAGAATCAGCAGGAGCTTCAGATCACAGAGTCGGAGCAAGAATGGAGGAGCTTGATTGAAGATGGGGAAGAAGTGGTGCCTCTTAACTCTGTCGATTCTTCTATTTCCAACTTAGAAGTTTTCTGTTATGCCAG[G/A]TTAGGATTAATTTTGTTTTGCTTACAGTTTGCACAAGTCAAAAACAGGTCCTTTGCAAATTTATGATAGCAGGTTCTGTATGTTTTGTCTGTCTGTCTGGTGGGTTTAGTTCAGTTAAAATGAACTCTCGTGTGATTGCTTTGTTAAAACAATGTTTAGATTAGCTTGGTCTGATTTGCAAATTAAATCTGCTTTGGTTATGACTGCTTTCTGGACAGAAATTATCTAAACATTCCAAAATTTGGACCTGATAATAACAATATGTATAATGTATTATAGCATTAAAAGAATATGTGATTACAAAAATGATTCAATTTACATTTAATATTTATTCATTTAGCAGACACATTTATCCAAAGCTACTGACGAATAAGGAATAAAAATAAGGGGTAGTATAGCCCACAATAATGGCTAGTAAAACAAAAATTTAGGAAGACATTATGGAAACGGAAATTAGAAAGAAATAAAAAGATTTTTTTTTTTTTTTTTTTTTTTTGGCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa23994

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000005479	Essential Splice Site	301	666	7	15

Genomic Location (Zv9):

Chromosome 21 (position 33684792)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	34684485
GRCz11	21	34718975

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTCTTACCTTCTGTCTGGACTTTGAGCAGCACCCAGAGGAGTACCAGGG[T/A]ATGACCCCTTGTGTTTGTTTGCCTGCAGCCTTCTGGTTTACATGCTACAT

Long Flanking Sequence:

ATCCAAAGTTCTCTATCCCTTGTGTTTTTCTGATGACAGCTTTATATTTTAGCTCTAACCTGAAGCATCCTGATTCAAATTATTGGAGCGTTTTAGACAAGATAAAAAAAATGATTAAATTGATTTTGCGCCCGATTCCTCCATTTCTATTTACTAATGTACCTGATAAGAGCATTTGACGCCAAAGGTGTTTCTCATTTCACTAAATGCCGCATTGCAATACAAAATCCATCTGTGTGAGTAATTTAGGGCTAAAGGTAAGCTGTTTTTTCTCACAAATGTTACACCCCCCTCTGTACTGAGTGAGTGCTATATATATATTTATCTCACATGAACACGTCATTAACCTGCTCTGTCCTGTTTCTTCCTCCAATGAAGGTCCCATGTTCACGGGCAGATGTGTTTGCCAGCAAGCAGCTGACCGTGGTGGAGAAGCGCATGCTGATGAAGTTTCTTACCTTCTGTCTGGACTTTGAGCAGCACCCAGAGGAGTACCAGGG[T/A]ATGACCCCTTGTGTTTGTTTGCCTGCAGCCTTCTGGTTTACATGCTACATCAGAGATCTGTCAGAGATACTTAACGTACAGTACCTTTCAGGTTAAATCAAATAAAAGGTATAATTTTGAAAATAAAGTTGAGATTAATTCCAAACTGACATTTACATTTAAGTCATTGTCCAAAGCGAAAATTAACTAACATGAATGTTATAAAGGTCTTACTGTGTAGTTCACCAGTGCATAACAACTGCAAAGACAGAATTTGTGGACAGGAGAAGCATTATTAATCAATTATGTTGTAGCCTAACATCTGAAATCCAGTCAAAGGTCAATGCATAAATTCACATTATTTCCCTTTCACAATGTCACACAGATTTCAATGAATAATTATGTAAATATCAAAATGTATATTTTCATATAGCTGTTTTTTTATTCCAAACTCAACTGATTTTTTTTTAAAAAGCAACCTTTTTGAATAATTGTATTTTTGATAATATTTTTGAATTATT

Associated Phenotype:

Not determined