ZMP

EFCAB6

Ensembl ID:

ENSDARG00000020735

Description:

EF-hand calcium binding domain 6 [Source:HGNC Symbol;Acc:24204]

Human Orthologue:

EFCAB6

Human Description:

EF-hand calcium binding domain 6 [Source:HGNC Symbol;Acc:24204]

Mouse Orthologue:

Efcab6

Mouse Description:

EF-hand calcium binding domain 6 Gene [Source:MGI Symbol;Acc:MGI:1924877]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa9883	Essential Splice Site	Available for shipment	Available now
sa7530	Missense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa9883

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000019765	Essential Splice Site	270	1082	7	25

Genomic Location (Zv9):

Chromosome 25 (position 19492956)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	18904933
GRCz11	25	19002884

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTTGACTGTGAAAACTATCGAAAAATCCCACCAGATTCAGTACAACTTGG[T/C]ACAGTTTTGCAAAATACACTGATGTAATATGATAAAGCCTTTATAAAGTA

Long Flanking Sequence:

GAGTATACTGTTGGTCCCAGCCATATTGACGTAGAAAATAGCAACTTTTAATTTTCCGGTCTTAGTACGTGACCTAACTACAAAAGAATCCAGTTTTAAAGAGGAAAATTATCAAAACATATTTTTTAGCAAGATGCTAATGATCTAATGGGATTCAGTGAATTATGCTAAACGAAGATAAAAATGTTCCAACCAGACCTGGAGATTGGCTGAATGGATTAAAAAATAGTCAAACTCTTAAAAGGATAGTTTTAATGTATTGTCGATAAATATGAGATTAATACAAACAAAATTCACACATATAGCCCCTTACATTGCACTCTCTAATATTATTGTTTTTTATACCCAGAATGCTAAATATTTCCTTTTCTTTCCTCCAGACTGTGGTCACATTACAGCATGAATAATGCTGATACAATATCCTACAAGGTGTTTCTTGAGAAGCTTGGTGTTGACTGTGAAAACTATCGAAAAATCCCACCAGATTCAGTACAACTTGG[T/C]ACAGTTTTGCAAAATACACTGATGTAATATGATAAAGCCTTTATAAAGTAGTTATTAATAATCGCATCAGTTTGAACAGAAGAAAAAAAAGTATAATTTTATGCAATTTATGCAAGTTTTATATCTGAATTATACATTTTCAGCACTGAATTGGGATGCTGTCAGTCGCAGTACCACAAGACCTAAAAGTAAGACAAGCTTAAGGAGGTTTTCAGGCAAATCCAGAGACAACTTGGATGACATCCAAATTAGGTTTTTGAGCAAGGTGAGTATCAAAGAGATGATTTTTTCTCACATATCTCATGAGTATTTCTACAGAAAAAAATCTGTTCTGTTGCAATAAACAGATGAAGAAGGACCATAGCCTTGTTGAAAAAGCTCTGCAAGCGTTTGACATTTCAGACAGTGGGTTTGTTTCTCTTGAGGATCTCAGATCTATTCTCAGCAATTTCCTCTTCGCCATGGATGATACTATCTTTAGGGAACTGTTGAAAAGGTAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa7530

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:

Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000019765	Missense	801	1082	20	25

Genomic Location (Zv9):

Chromosome 25 (position 19486621)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	18898598
GRCz11	25	18996549

KASP Assay ID:

554-4194.1 (used for ordering genotyping assays)

KASP Sequence:

ACCTTTTAAAGCTAATAGCCTTTTTTTTTTTTTTCAGAAAGGACGGAATT[C/T]TTGACAATGCATGTGATCAAGTTCATGAGTACCTAGCAGCCAYTGCACAM

Long Flanking Sequence:

TTTATTAGAATTCTTTTTCTGGAATGCAAAGCCATAACATTTAAATCCAGAGAGAATTAACATTTTCAAGCTGTTTCGTAATTTTTTCCATTGCTTCTTCATCATTGTGTGGATGTATTGTTTTTGTGTGTACTTTGTAAGTCAACAGTACCTGCTGTTGTTTGCAGGATGCTCTGACTGCTTTCTATCTCATGGACAAAAACCGAGATGGTTTAGTAAATCGGATTGACTTCAGAGCTCTGTTTGACAGCCTGATGTTTGTAACTCAAGAAAGGGAGTATCAGAGATTGCTCGACATGTTGGGTCTTACACCTGGCGCCACACTTAACTACACTGAGTTCCACAAAAAAGTCCAGTCTAGCGACAAGATGAAATTACATCACCACGATGGCACATTGTGAGAATCATATTGTCACTTGTCTTGAATTGATCTGTTTTTTAAAGCTAATGACCTTTTAAAGCTAATAGCCTTTTTTTTTTTTTTCAGAAAGGACGGAATT[C/T]TTGACAATGCATGTGATCAAGTTCATGAGTACCTAGCAGCCATTGCACACAAACGACCTTCAGAGATCTCAAAGGTAACCATCCAGTCCTGTTTATTAAAATAGCATTTGGTGCACTCAGTCAGCTCCCTTGCTCATGAGGTGCTTGATTTGTTGGTCGTGTAAACGAATTCGAGCACTGGTAAAAACAGTGATCATAACATAAGCTTGGTTCACTACACACTGGGACACTGAGTGTGACATGAGAACATCTTCATCGTACAACCACAAACCTGTAATTTATAAACAACAGCAGAACAATATATTTTTTAGCAGAACAATACGTTTTAAAAAGTATTTTATAGCTAAAAAAAAGTGATTGTTTCATATACAGTTCATTAAGATGTCAAGGCCAGTAAACAGAAAAAACCCAAATGCAGGTGAAGACAATGATTTATTGTGGAAGGCAAAAATTCTAACAGATCAGTTCATTAGCCAGAATGCAAAATTGAAAAAAAAATC

Associated Phenotype:

Not determined