fgfr3

Ensembl ID:

ENSDARG00000004782

ZFIN IDs:

ZDB-GENE-000816-1, ZDB-GENE-000816-1

Description:

Fibroblast growth factor receptor 3 [Source:UniProtKB/TrEMBL;Acc:B8JIA2]

Human Orthologue:

FGFR3

Human Description:

fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:3690]

Mouse Orthologue:

Fgfr3

Mouse Description:

fibroblast growth factor receptor 3 Gene [Source:MGI Symbol;Acc:MGI:95524]

Alleles

There are 7 alleles of this gene:

Mutation Details

Allele Name:

sa13480

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Mutation:

C > A

Consequence:

Nonsense

Genomic Location:

Chromosome 13 (position 13119347)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CACTGTGCTGCAGACTAAAAGCATCTCTCTCTTTCTTCATTTCTCAGATT[C/A]GCTGTCCTCTGGTGATGATGAGGACTATGATGAAGATGAGGACGAGGCAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa273

Current Status:

F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

We currently estimate that this allele will be available during 2015.

Mutation:

C > T

Consequence:

Nonsense

Genomic Location:

Chromosome 13 (position 13099390)

KASP Assay ID:

554-2825.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CTAAYGTGTCTGAACTTGAACTGCCCTCTGACCCCAAGTGGGAGTTTACT[C/T]GAACAAAGTGAGTTGAAGCTAAAGCACTCATCAGATGATTTTAATGAAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa9259

Current Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

We currently estimate that this allele will be available during 2015.

Mutation:

C > T

Consequence:

Nonsense

Genomic Location:

Chromosome 13 (position 13099390)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CTAAYGTGTCTGAACTTGAACTGCCCTCTGACCCCAAGTGGGAGTTTACT[C/T]GAACAAAGTGAGTTGAARCTAAAGCACTYATCAGATGATTTTAATGAAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15832

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Mutation:

C > T

Consequence:

Nonsense

Genomic Location:

Chromosome 13 (position 13097699)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

TGTACGTGCTGGTAGAATACGCCTCTAAAGGGAATCTTAGGGAATACTTA[C/T]GAGCCAGAAGGCCACCTGGGATGGACTACTCATTCGACACCTGTAAGATC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa1675

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Mutation:

T > A

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 13 (position 13097282)

KASP Assay ID:

554-1621.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CCTTGCCAGAGATGTGCACAACATTGACTACTACAAGAAGACCACCAACG[T/A]AAGTCGACACWGATTATCAATCTCGAAGGAGAGAGCTCTTGGGTGGCATT

Associated Phenotype:

Normal

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461

Mutation Details

Allele Name:

sa28078

Current Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

We currently estimate that this allele will be available during 2015.

Mutation:

T > C

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 13 (position 13090605)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

TGAAGGAAGGCCATCGGATGGACAAACCGGCCAACTGCACTCATGAACTG[T/C]ACGCTTGTTATTCATCTTTTAAAACGCCTCATGTTTTGAGTCATCTCATG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa10458

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Mutation:

G > T

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 13 (position 13088122)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

GACAGCTGGTGGAGGACCACGACAGGGTTCTTTCCATGACCTCCACTGAC[G/T]TAAGAGCTCTGGTGCATCAAACCAAAMACCTTAAACCTTTCACACTCAAC

Associated Phenotype:

Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

• Bladder cancer: A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. (View Study)
• Urinary bladder cancer: A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

OMIM

• Achondroplasia
• Bladder cancer, somatic
• CATSHL syndrome
• Cervical cancer, somatic
• Colorectal cancer, somatic
• Crouzon syndrome with acanthosis nigricans
• Hypochondroplasia
• LADD syndrome
• Muenke syndrome
• Nevus, epidermal, somatic
• Spermatocytic seminoma, somatic
• Thanatophoric dysplasia, type I
• Thanatophoric dysplasia, type II

More OMIM information for FGFR3

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below: