ZMP

col6a2

Ensembl ID:

ENSDARG00000061436

ZFIN ID:

ZDB-GENE-070501-7

Description:

Col6a2 protein [Source:UniProtKB/TrEMBL;Acc:A3KNX1]

Human Orthologue:

COL6A2

Human Description:

collagen, type VI, alpha 2 [Source:HGNC Symbol;Acc:2212]

Mouse Orthologue:

Col6a2

Mouse Description:

collagen, type VI, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88460]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15560	Nonsense	Available for shipment	Available now
sa41880	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa15560

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000087597	Nonsense	188	1015	2	27
ENSDART00000103187	Nonsense	188	310	3	9
ENSDART00000129629	Nonsense	188	303	3	8

Genomic Location (Zv9):

Chromosome 11 (position 34786523)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	33687460
GRCz11	11	33950262

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GGCACGMGATGAAAATATTAGGATCTTCGCTGTGGCATCGTCCAGGAATT[T/A]GGAGGAGACGGGACTCAGGGAGATWGCAAACTCACCCGCTGGAGTTTACC

Long Flanking Sequence:

TCCCCAAGTGTGTTCTGTCCCTTCAGAGAGTACCGAATGCCCGATCGACTTGTACTTTGCTATTGACACATCTGAGACCATCGCTCTTCAGGAGAATCCGCCAGGCAGCTTGGTAGAGAGTATCAAAGATTTCACCATCAGATTTGCTGAGAAGCTCCAAAATGTGAACTACAGAGGATCCGTGAACATCACCTGGGCCATCGGAGGACTCCACTTCTCCCAGCTCCAGGAGTTCTTCAGCACCATCACCACTAAAGAGAAGTTCATCAGTAATCTCCGGCCCATCAGATACCTAGGCAGGGGCACGCACATTGATTGCGCCATCACCAACATGACCAAGCAGCTGGTCCGCTTTCCATCCAGACCCGATGCCAAACGATTCGCCGTGGTCATCACTGATGGTCACGTGACTGCGAACCCATGCGGAGGGATCAAAGTGGCGGCAGAACGGGCACGCGATGAAAATATTAGGATCTTCGCTGTGGCATCGTCCAGGAATT[T/A]GGAGGAGACGGGACTCAGGGAGATAGCAAACTCACCCGCTGGAGTTTACCGGGATAAATACATGGCGGTGAATCTCACTGGAACACGGCCGGTCATTGTGACGTCCACAATCGATCGCATTTATGACACAATGGTAATGCAAAGCTTTTTATTAGTGCTGGGAAAAGATTACTCGCGATTAATCACATCCAAAACAAAAGTGATAGATGTGTGTGTTATATAAGCAATATCACACTTGGAGCAGTGCGATATAGCTGTATATCAGCCCTGGTGGGAGGCGTGCAATGGCTTGAGGCCTCAGGCCGAGTGCCTTAGTGTCCCTCCAGTGACAATACACAACCATATCGCACTGCTACGAGTGTGATATTGTGTTTATACAACAGTTCAACGACATATTCATGTATATTAAAAAAATCAAACACGAAGAGTCTCAAATAACCTCAAAAACTACTTTTTTTCCGCCATTCATTAACATATGCAGCTGACCGCAGAACAGCAAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41880

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
ENSDART00000087597	Nonsense	669	1015	25	27
ENSDART00000103187	None	None	310	None	9
ENSDART00000129629	None	None	303	None	8

Genomic Location (Zv9):

Chromosome 11 (position 34770867)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	33671804
GRCz11	11	33934606

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTCGAGTTGGTGTCGTCCAGTACAGTCACAACGGAACATTCCAGGCCATT[C/T]GACTCAACGACTCCAAGATCGACTCCATGTCAGCCTTCAAAGATGCTGTG

Long Flanking Sequence:

AGCAACCACCAAAACAAGATAAGTCATCTTAGCACTTACCTACCAACTCCCTAGCAACCGCCCACAACAATATTAGTAATTTTAGCAGCCACCAACACATTTCCAAAAGCTAAGGATTGAGGCAAAGTGAGATGAGTCTTAGCACCCAACTACCAGCACCCTAGCAACCTCATACAACAAGATGAGTCATTTTAGCAACCACCAAAATCCTTATAATGAGGCAAAGTAAGATTAATCAGCTTAGCAACTGCATAGCAACACCCTAGCAACCACCCACAAAAATATGAGTGATTTTAGATCTTGATTAGCAACACCCTAGCAACCACCCACAAGATGAGTCGAAGTTGCACCAAAGTAACGCTTCTAAAACACACAGCTTTAAGCTAGTAGCAATGCAGATGAGCTTTAATGTAATCTAATCAAATGTGTATCTTCCAAATGTCTCAGGAACTCGAGTTGGTGTCGTCCAGTACAGTCACAACGGAACATTCCAGGCCATT[C/T]GACTCAACGACTCCAAGATCGACTCCATGTCAGCCTTCAAAGATGCTGTGAAGAAGCTAGAGTGGATTGCTGGAGGAACGTGGACTCCTTCAGCCCTGAAGTTCGCCTACGATAACCTGATTCGTGACAGCCGTCGGTCAAAAGCCAATGTGACGGTGGTCGTAATCACAGATGGTCGGTATGATCCCCGGGATGATGACAAACTGCTCAATTACCTCTGCACCGACACCAGCATTGATGTCAACGCTATTGGTATTGGAGATATGTTTGACCAGCCGGAGGAAAACGAAAGCTTGAAGTCTATCGCCTGTAGAAAAGATGGAAGAGTCATGGGAATGAGGCGTTTCGCTGATCTGGTCGCAGAAGATTTCATCGACAGGATTGAGACTGTGCTTTGTCCGGGTGAGTGTTGTCAGAAAGGTTGTCTGATTTTACACTGCACTGTTGCTCTTTACCGCAATTTTACAGTTTTACTGCAAAGACTCCCAGTAAAATACCAC

Associated Phenotype:

Not determined