Product Details

SNP ID
rs121917844
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177994153 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTGTCCCGGGCAAGACTCTCTC[G/A]GGCCCAGATGTCGGGGTACTGGTTC
Phenotype
MIM: 601538
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
PROP1 PubMed Links

Gene Details

Gene
PROP1
Gene Name
PROP paired-like homeobox 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006261.4 604 Nonsense Mutation CGA,TGA R99* NP_006252.3

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