Product Details

SNP ID
rs145071477
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23059644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAAGGGCCTTGGTGGCATTCAGGC[A/G]CGCTATGGTCATGGGGGAGTGCAGC
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 1358 Missense Mutation CGC,TGC R289C NP_055248.1
XM_011530149.2 1358 Missense Mutation CGC,TGC R339C XP_011528451.1
XM_011530150.1 1358 Missense Mutation GCG,GTG A333V XP_011528452.1
XM_011530151.2 1358 Missense Mutation GCG,GTG A333V XP_011528453.1
XM_011530152.2 1358 Missense Mutation GCG,GTG A333V XP_011528454.1
XM_011530154.2 1358 Missense Mutation GCG,GTG A265V XP_011528456.1
XM_011530155.2 1358 Missense Mutation GCG,GTG A201V XP_011528457.1
XM_017028774.1 1358 Missense Mutation GCG,GTG A333V XP_016884263.1

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