Product Details

SNP ID
rs104894920
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:83508928 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGGAACAGTTCGCCAAACAATTC[A/T]AACAAAGAAGAATCAAGTTGGGCTT
Phenotype
MIM: 300039
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
POU3F4 PubMed Links

Gene Details

Gene
POU3F4
Gene Name
POU class 3 homeobox 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000307.4 668 Nonsense Mutation AAA,TAA K202* NP_000298.3

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