Product Details

SNP ID
rs115675693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76043864 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTGAAGGCGCCAGCATCAGAAT[C/T]TACTTCATTTGCATATTTCAGGACT
Phenotype
MIM: 604858
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SRP68 PubMed Links

Gene Details

Gene
SRP68
Gene Name
signal recognition particle 68
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001260502.1 1524 Missense Mutation AAT,GAT N459D NP_001247431.1
NM_001260503.1 1524 Missense Mutation AAT,GAT N158D NP_001247432.1
NM_014230.3 1524 Missense Mutation AAT,GAT N497D NP_055045.2

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