ZMP

MAN2C1

Ensembl ID:

ENSDARG00000079835

Description:

mannosidase, alpha, class 2C, member 1 [Source:HGNC Symbol;Acc:6827]

Human Orthologue:

MAN2C1

Human Description:

mannosidase, alpha, class 2C, member 1 [Source:HGNC Symbol;Acc:6827]

Mouse Orthologue:

Man2c1

Mouse Description:

mannosidase, alpha, class 2C, member 1 Gene [Source:MGI Symbol;Acc:MGI:1920994]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa14983	Nonsense	Available for shipment	Available now
sa39484	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa14983

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
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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110123	Nonsense	62	1034	2	28

Genomic Location (Zv9):

Chromosome 25 (position 27679089)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	26369183
GRCz11	25	26812385

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCTCTGTGTTCTTGTCAGAGAAGCGCATTCCTTATTCAGAGGCAATTCAA[C/T]AAAACTTTCAGCCTTGTAAAGTTGGTGATTCATTTGGACCCACGTGAGTT

Long Flanking Sequence:

GTTCCTTGTTTTTGTATATGTACTTCCGGGTTCTTGCACAAACACGTCTTGGGCTTATTGGATTCATAACTACGCTACTTTTGAAAAATGTACCACCAACCCGTACTGAAAAACAGACGGACTCTGCTGGAGCGTGTGGAAAAGTTTATTTCTGATATATATTTCACAGACTGCAACCTTAGAGGAAGGTAAGCAAATGCACTTCAAAGGTAAACGAGTTCAATACATAGAGTTTGGTATTTAAAGTCATGTTTTGTGAAAATCCACTTATCATACTTGTATCCCACTTTACTCTGTGTCTTAAGATTATTATTATTTGTATTTGTATGTGAACGTTAACAAACGACCTTTTACCCTGTTTAGTGTGGCAGATGGTTTGTTATGCACAGTGAATTAAACACTCTCATTCCCTGTGCAGACTGTTTGGAGACATTTACCCTCTTGAATCCATCTCTGTGTTCTTGTCAGAGAAGCGCATTCCTTATTCAGAGGCAATTCAA[C/T]AAAACTTTCAGCCTTGTAAAGTTGGTGATTCATTTGGACCCACGTGAGTTACATATGGTTTACAGTGCAACAAACTGTTTATGGTAATTGGTAACATAAACATTTTAAATGTTTCACAGCTGGTGGACATGCTGGTTCAAAGTAAACTTGAAGATCCCAGAGACTTGGGGAGGGAAGGAAGTCCACTTAAGATGGGAAAGTGATGGAGAAGGAATGGTATGGCAGAATCAACAACCAGTTCAGGTGAGTAGGTTGAGGGCTGGATCATAATATTGACTTGCTGATGTGAACAAGTGAGTGCAATGTGAACAATTTTTCAGGGATTGACCAATGAAGGTGAGAAGACAAGTTACATTCTGACTGAGTGCTTGAAGGACAGTGAATCTCATGGGTTAGTGGAAATATGCAGTATAGACAAAATGTATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACCTACACTGATA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa39484

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110123	Essential Splice Site	76	1034	2	28

Genomic Location (Zv9):

Chromosome 25 (position 27679134)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	26369228
GRCz11	25	26812430

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTCAACAAAACTTTCAGCCTTGTAAAGTTGGTGATTCATTTGGACCCACG[T/C]GAGTTACATATGGTTTACAGTGCAACAAACTGTTTATGGTAATTGGTAAC

Long Flanking Sequence:

GTCTTGGGCTTATTGGATTCATAACTACGCTACTTTTGAAAAATGTACCACCAACCCGTACTGAAAAACAGACGGACTCTGCTGGAGCGTGTGGAAAAGTTTATTTCTGATATATATTTCACAGACTGCAACCTTAGAGGAAGGTAAGCAAATGCACTTCAAAGGTAAACGAGTTCAATACATAGAGTTTGGTATTTAAAGTCATGTTTTGTGAAAATCCACTTATCATACTTGTATCCCACTTTACTCTGTGTCTTAAGATTATTATTATTTGTATTTGTATGTGAACGTTAACAAACGACCTTTTACCCTGTTTAGTGTGGCAGATGGTTTGTTATGCACAGTGAATTAAACACTCTCATTCCCTGTGCAGACTGTTTGGAGACATTTACCCTCTTGAATCCATCTCTGTGTTCTTGTCAGAGAAGCGCATTCCTTATTCAGAGGCAATTCAACAAAACTTTCAGCCTTGTAAAGTTGGTGATTCATTTGGACCCACG[T/C]GAGTTACATATGGTTTACAGTGCAACAAACTGTTTATGGTAATTGGTAACATAAACATTTTAAATGTTTCACAGCTGGTGGACATGCTGGTTCAAAGTAAACTTGAAGATCCCAGAGACTTGGGGAGGGAAGGAAGTCCACTTAAGATGGGAAAGTGATGGAGAAGGAATGGTATGGCAGAATCAACAACCAGTTCAGGTGAGTAGGTTGAGGGCTGGATCATAATATTGACTTGCTGATGTGAACAAGTGAGTGCAATGTGAACAATTTTTCAGGGATTGACCAATGAAGGTGAGAAGACAAGTTACATTCTGACTGAGTGCTTGAAGGACAGTGAATCTCATGGGTTAGTGGAAATATGCAGTATAGACAAAATGTATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACCTACACTGATATACATATATCAGTTTTTCTTGTCTCATTTCAGAATTACTCTATAT

Associated Phenotype:

Not determined