ZMP

NP_001177687.1

Ensembl ID:

ENSDARG00000028524

Description:

collagen type V alpha-3b [Source:RefSeq peptide;Acc:NP_001177687]

Human Orthologue:

COL5A3

Human Description:

collagen, type V, alpha 3 [Source:HGNC Symbol;Acc:14864]

Mouse Orthologue:

Col5a3

Mouse Description:

collagen, type V, alpha 3 Gene [Source:MGI Symbol;Acc:MGI:1858212]

Alleles

There are 8 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa12865	Nonsense	Available for shipment	Available now
sa19639	Essential Splice Site	Available for shipment	Available now
sa13950	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa12865

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
ENSDART00000014072	Nonsense	1082	1675	44	64

Genomic Location (Zv9):

Chromosome 1 (position 60239400)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	58557097
GRCz11	1	59263542

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGTGTGTGTGTGTGTGTCAGGGTGTGGATGGTGAGGTYGGGCCTACAGGA[C/T]AGCAGGGCAWGTACGGACAGAAAGGAGACGAAGGGGCCCGAGGATTYAAG

Long Flanking Sequence:

ATGTCCTACAACTTTACACAAACAGCTGGAAACAAGTCCTCAAACCATACACAACAACTGAAACAAATCTTAAATGTACTTACAGGCTGCTGGTCTAGATGCTGATAAAGTGCTTCTCTTCTGAAGTCTCTTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGGGAAACTGGAGCTCCAGGACAGAAAGGCAGCAAAGGAGACAAAGGAGAATCAGTGAGTGACTGAACTAAAACACACACACACACACACACACACACACACACATGTCCAAGTGTCACTGATGATGTAAATCTGCACTCAGGGGCCTCCAGGTCCAGTCGGCTCTCAGGGGCCTGAGGGGCAGCCAGGAGCGCCGGTGAGTGTGTTTAATAAGGGGAAACTGGGGGTCTTCATCTCCTCACCGTGTGTTTGGAGTGTGTGATTAAGTATGTGTGTGTGTGTGTGTGTGTGTGTCAGGGTGTGGATGGTGAGGTTGGGCCTACAGGA[C/T]AGCAGGGCATGTACGGACAGAAAGGAGACGAAGGGGCCCGAGGATTCAAGGGCTCCAGGGGCCCGGGGGGACTGCAGGTACACCAGCACTCAACACTGATCCTCTGTCTGATTAAAGACTCGAACTAAACTCACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGAATGCCTGGTCCTCCTGGAGAGAAAGGAGAGAGCGGGAACTCTGGTCTGCTGGTGAGCTCATGATTGATCGGTCTGTGTTGATCAGCTCATGTTGAGGATATCAGCTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCAGGGTCCTCCTGGTCAGTTTGGTCCTAGAGGAGCTCAGGGGCCCTCTGGTGGACAGGTAAACACACACATCTTGTGTTTAAGCTAAAGTTACGCAGATCTGGGAATGAGGAGCTAATAGTCGACTGAATCAGACAAATGTCTAATTTAAATATGCAAATTAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa19639

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000014072	Essential Splice Site	1323	1675	54	64

Genomic Location (Zv9):

Chromosome 1 (position 60234249)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	58552047
GRCz11	1	59258492

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCTCTGGGAAGCCGGGTCCTCAAGGTCTTCCAGGAATCCCAGGACCAGCG[G/A]TGAGATCCTCGACTCCTCAGGGGGTTTCCACACTTCCACACAGCAGGTTC

Long Flanking Sequence:

AATATGCATTATACCTCATCAGGGAGGAGCTGAATGAATGTTTAATCTGTATATCCTGCATTTTGCACACTGACGAGCATGTGACCCGGTGCTGCTGTAGTCATTGCATATACTGAACGTTCATTATTTGACTATGCTGAGGAATTCAGCCAGATTTTCTTTCAAATATAAAACAAGCATTAATAAATGACGTGTGAGAGTAGAGATGGGCTGAGCAGATGATGCATTCCAGAGGTCTGGCCAGCAGCTGAAACACACCATCCTCATTGAGTTTACATCTGCTTCTGTCAATCACCTTAAGGAGCTGATCAGCAGACCTCAGAGAAGAAGATCTGCTCACTGATGCTGCCAGACATGTTTGTGGTCATGTTTTCTGTGTTTTCTACTTTCAGGGCGCTCCGGGATACGAGGGCATTATAGGGAAGCCGGGGCCGGTGGGTGGGCAGGGGACCTCTGGGAAGCCGGGTCCTCAAGGTCTTCCAGGAATCCCAGGACCAGCG[G/A]TGAGATCCTCGACTCCTCAGGGGGTTTCCACACTTCCACACAGCAGGTTCAGGAACATTCGGAAGCACAAGAGCATCGGGCTGTTGACCTGAGACTCTGCAGACCAGAGCTGAGTCTCTAGAATTAATTCTTAGCATAGTTTTTTAAGAGCGCTTAGAGCGCTGTCTGCTGTTAAAAACTAGCATATACCGCCATCTGCTGTTAAAAACTAGCGAATACAGCAATCTGCTGTTAAAAACTAACGTATACCGCCATCTGCTGTTAAAAAACTACCGAATACGGCAATCTGCTATTAAAAACTAGCGAATACAGCAATCTGCTGTAAAAACTAACATATAGCGCCATCTGCTGTTATAAAACTTTGCGAATACGGCAATCTGCTGTTAAAAACTAGAGTATAGCGCCATCTGCTGTTCAAAAACTAGCATCTACCTCTGTATACTGTTTAAAAAGTAGCGTATAGCATGTCTACTATTAAAAACTACAGTATAGCGCCACCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa13950

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
Order Allele From EZRC

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000014072	Essential Splice Site	1323	1675	54	64

Genomic Location (Zv9):

Chromosome 1 (position 60234248)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	58552046
GRCz11	1	59258491

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CTMTGGGAAGCCGGGTCCKCAAGGTCTTCCAGGAAWCCCAGGACCAGCGG[T/C]GAGATCCTCGACTCCTCAGGRGGTTTCCACACTTCCACAMAGCAGGTTCA

Long Flanking Sequence:

ATATGCATTATACCTCATCAGGGAGGAGCTGAATGAATGTTTAATCTGTATATCCTGCATTTTGCACACTGACGAGCATGTGACCCGGTGCTGCTGTAGTCATTGCATATACTGAACGTTCATTATTTGACTATGCTGAGGAATTCAGCCAGATTTTCTTTCAAATATAAAACAAGCATTAATAAATGACGTGTGAGAGTAGAGATGGGCTGAGCAGATGATGCATTCCAGAGGTCTGGCCAGCAGCTGAAACACACCATCCTCATTGAGTTTACATCTGCTTCTGTCAATCACCTTAAGGAGCTGATCAGCAGACCTCAGAGAAGAAGATCTGCTCACTGATGCTGCCAGACATGTTTGTGGTCATGTTTTCTGTGTTTTCTACTTTCAGGGCGCTCCGGGATACGAGGGCATTATAGGGAAGCCGGGGCCGGTGGGTGGGCAGGGGACCTCTGGGAAGCCGGGTCCTCAAGGTCTTCCAGGAATCCCAGGACCAGCGG[T/C]GAGATCCTCGACTCCTCAGGGGGTTTCCACACTTCCACACAGCAGGTTCAGGAACATTCGGAAGCACAAGAGCATCGGGCTGTTGACCTGAGACTCTGCAGACCAGAGCTGAGTCTCTAGAATTAATTCTTAGCATAGTTTTTTAAGAGCGCTTAGAGCGCTGTCTGCTGTTAAAAACTAGCATATACCGCCATCTGCTGTTAAAAACTAGCGAATACAGCAATCTGCTGTTAAAAACTAACGTATACCGCCATCTGCTGTTAAAAAACTACCGAATACGGCAATCTGCTATTAAAAACTAGCGAATACAGCAATCTGCTGTAAAAACTAACATATAGCGCCATCTGCTGTTATAAAACTTTGCGAATACGGCAATCTGCTGTTAAAAACTAGAGTATAGCGCCATCTGCTGTTCAAAAACTAGCATCTACCTCTGTATACTGTTTAAAAAGTAGCGTATAGCATGTCTACTATTAAAAACTACAGTATAGCGCCACCTG

Associated Phenotype:

Not determined