Product Details

SNP ID
rs112904644
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:74592398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTCCTGATCCTGTAGATTCACCA[C/T]TGGCAGCTGTGTCTGAAGAACCTGC
Phenotype
MIM: 300379
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RLIM PubMed Links

Gene Details

Gene
RLIM
Gene Name
ring finger protein, LIM domain interacting
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016120.3 1207 Missense Mutation AAT,AGT N306S NP_057204.2
NM_183353.2 1207 Missense Mutation AAT,AGT N306S NP_899196.1

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