fshr

Ensembl ID:
ENSDARG00000071494
ZFIN ID:
ZDB-GENE-020423-5
Description:
follicle-stimulating hormone receptor [Source:RefSeq peptide;Acc:NP_001001812]
Human Orthologue:
FSHR
Human Description:
follicle stimulating hormone receptor [Source:HGNC Symbol;Acc:3969]
Mouse Orthologue:
Fshr
Mouse Description:
follicle stimulating hormone receptor Gene [Source:MGI Symbol;Acc:MGI:95583]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13419 Essential Splice Site Available for shipment Available now
sa42035 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa13419
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105751 Essential Splice Site 206 668 7 10
Genomic Location (Zv9):
Chromosome 12 (position 26269769)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 24642210
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCGTGAGATAGACAGCCATGCATTCAATGGTACCAAAATTGGAAAACWG[T/G]GAGTGGTTACATCTKTTATATATTTATAAATCACATAAAAYCTCTAATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42035
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105751 Essential Splice Site 231 668 8 10
Genomic Location (Zv9):
Chromosome 12 (position 26269929)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 24642370
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCACATCCACAGTTACGCCTTTAAAGGAGCCGAAGGCCCCGTCGTTCTG[T/C]AAGCATGAACAGCTCTGACTTTCAACAACAATACAAACTCACCAGCTGGA
Associated Phenotype:
Not determined

GWAS

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

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

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