Product Details

SNP ID
rs11538778
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:150446932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTCATCTCGGTCTGCCTTTACCT[T/A]CATCCCACCAGTCACACGGCAGATG
Phenotype
MIM: 130620
Polymorphism
T/A, Transversion Substitution
Allele Nomenclature
Literature Links
RPS14 PubMed Links

Gene Details

Gene
RPS14
Gene Name
ribosomal protein S14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001025070.1 454 Nonsense Mutation AAG,TAG K61* NP_001020241.1
NM_001025071.1 454 Nonsense Mutation AAG,TAG K61* NP_001020242.1
NM_005617.3 454 Intron NP_005608.1
XM_017009684.1 454 Nonsense Mutation AAG,TAG K61* XP_016865173.1

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