ZMP

LOC100334697

Ensembl ID:

ENSDARG00000053709

Human Orthologues:

ACHE, BCHE

Human Descriptions:

acetylcholinesterase [Source:HGNC Symbol;Acc:108]
butyrylcholinesterase [Source:HGNC Symbol;Acc:983]

Mouse Orthologues:

Ache, Bche

Mouse Descriptions:

acetylcholinesterase Gene [Source:MGI Symbol;Acc:MGI:87876]
butyrylcholinesterase Gene [Source:MGI Symbol;Acc:MGI:894278]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa40201	Nonsense	Mutation detected in F1 DNA	Not yet available
sa44580	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa40201

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000075788	Nonsense	23	576	1	8

Genomic Location (Zv9):

Chromosome 4 (position 2128687)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	4	2418394
GRCz11	4	2267707

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTGTGTTGAGTTTGTGTGTGTTTTTCCTCACTGACTCCAGATCAGATGCT[C/T]AGATCAATGTATCTGCTGTACTGCGCAGTGTTTCTCCATCAGCACTGACC

Long Flanking Sequence:

TTCTTATAAATAATTTATAAATAAATTATAATTGTATAATAAGTACAAGTAATAATAAATTGTATAATAAGTAACCTTAAATTAATTTTAAAATGAAATGAAATAATACAATACATTGTTTATTTTAAACCTCCTAAATCACTAAAAATATTATTTTAATTACATATTAATTGATAGAATTATAATATTCCTTTAACAAACCACAAATACAAATACAAAGATATGGACGTCAAAGGAATGAATGTAACTTAATTCAATTTTCTAAAGTACAGACAACCTGCTGGTCATTAAACACACACACACAAACAAACACACACACACACAACAGAGTCCCAGTGTACAGCATAATAAGAGTCACAAGAGCTCCAGAAGACTGAGGAATTGTGGGAAATCTTCCTCCTCCATCCATTCGAGCGCGCAGAAGAGCAGAAAACATGCTGTCCTACAAGTGTGTGTTGAGTTTGTGTGTGTTTTTCCTCACTGACTCCAGATCAGATGCT[C/T]AGATCAATGTATCTGCTGTACTGCGCAGTGTTTCTCCATCAGCACTGACCCCAGGTCAGCCCTCCAGAACAGCAGATGGACCCAAACTGCTTATTAAAGATGGACTGGTACAGGGCCTGCTGCTGGACAAGTCTTATGTGTTTTATGGGATCCCGTTTGCTGATCCTCCAGTCGGGACGTCCCGTTGGAAAGCTCCGAGACCTGTTACTCCATGGAAAGGGGTATATGATGCCTCCTTTCCCAGAGCGGCGTGTATGCAGGCCTGCATCGGCCCCATTGCTGATGACTGCCCCAAAAAGGTGAGACAATTGAGTATTTTCAGACTAAACAAACTTTTCAGATGCTGCATATGTAAAGGACGCATAAAGTGTACATGGTAATTATTCAATGAAACTGTCTAGGATTTGTTAATTATGCTTTTTTTACTAAGTTACCTATTACAATTATAAATATGAACAGTGCTCTGCGTATATAAGTACACCCCTCACAAATCAATCTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa44580

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
ENSDART00000075788	Essential Splice Site	189	576	2	8

Genomic Location (Zv9):

Chromosome 4 (position 2130958)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	4	2420665
GRCz11	4	2269978

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CATCAGCAACTACACACAGACGGTGATCGTGAGCATCGCATATCGCCTGG[G/A]TGAGTCACAAACTGACCATAATAATCATAACCAGGGGTTTGATTTATTAA

Long Flanking Sequence:

ATTTTCTACTAGGGGTCATTATCTATTTATTATTCATATTTTCCACTAGGGGGGCGTCATCTCTTTCTCTAGTTTTTCGTAAGCAATTACTGAAATAGGAATTTAATCAATCTTAACTTTTACAATAATAAAACATAAAATCTGTAAGTATGAAACTAATATTGCTTTGAATGAACATGAACAAGTCAGTCGACCAAATCAGAAACATTTTAAATGGGCAATTTATGCGACTTGGAATGTAACGCAGAATTATTACAAAGCATATAGAGCAGTAAACCTGTGTATTTTGTGTGTTCAGGTGAGTGAGGACTGCCTGTACCTGAATGTGTTTGTTCCTCTGAGTGTGGATCTGGCGACTCCGCTGCTGCAGCCGCTGCCGGTGATGCTGTGGATCCACGGTGGGGATTTCATCGCAGGATCCGCATCCAAACCGCTGTACGACGGCAGATTCATCAGCAACTACACACAGACGGTGATCGTGAGCATCGCATATCGCCTGG[G/A]TGAGTCACAAACTGACCATAATAATCATAACCAGGGGTTTGATTTATTAATTTTGGGTAGAAATCTTCCTAAAAGTGAACGTACTCCACAATACGTTTGAATTATTTTTAATTGTGTTTATTAATGATTATAGCACATATGAGGATTTAAAATGATCAGTATTTAAGTTATCTATGCACATCATTATTTTGTAAAAAAAAATTTGCACTCATAATCTTAAACCAAATATCATTACCTTTCCTCCCCCTTTTGAAATTACCTTTCTTAAATTCTGGTCACATGGAATAGCTTTAGGGAGGGGCTATCAGTCATTTAGGGCGGGGCAATCAGTCATTTAAGGTGGGATTGTCAATAAGTTAAGGCAGGGTTTTACACTCATTTAGGGAGGGGCTATCAGTACTTTAGGGCGGGGCAAACAGTCATTTAAGGCGGGACTGACAGTAATTTAGGGCGGGGTTATCAGTCATTTAGGGAGGGCCTATCAATCCTTTAGGGCGGGG

Associated Phenotype:

Not determined