Product Details

SNP ID
rs140606064
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23059706 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCCGATGGCTTGTGCCTCCAGG[A/G]CCGCATACTTCCCTGCAGGCCACCA
Phenotype
MIM: 605663
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RSPH14 PubMed Links

Gene Details

Gene
RSPH14
Gene Name
radial spoke head 14 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014433.2 1296 Missense Mutation GCC,GTC A268V NP_055248.1
XM_011530149.2 1296 Missense Mutation GCC,GTC A318V XP_011528451.1
XM_011530150.1 1296 Silent Mutation GGC,GGT G312G XP_011528452.1
XM_011530151.2 1296 Silent Mutation GGC,GGT G312G XP_011528453.1
XM_011530152.2 1296 Silent Mutation GGC,GGT G312G XP_011528454.1
XM_011530154.2 1296 Silent Mutation GGC,GGT G244G XP_011528456.1
XM_011530155.2 1296 Silent Mutation GGC,GGT G180G XP_011528457.1
XM_017028774.1 1296 Silent Mutation GGC,GGT G312G XP_016884263.1

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