Product Details

SNP ID
rs104893841
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:67740526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATAAGTGGATCAAAGCATGGGTTT[A/T]AAAAGGCAAAGAGAAAGAAGAAGTG
Phenotype
MIM: 138850
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GNRHR PubMed Links

Gene Details

Gene
GNRHR
Gene Name
gonadotropin releasing hormone receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000406.2 2692 Nonsense Mutation TAA,TTA *314L NP_000397.1
NM_001012763.1 2692 UTR 3 NP_001012781.1

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