Product Details

SNP ID
rs145771609
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23059506 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACTGATGGCGATCCGGGCTGCCC[G/T]CTGTAAGGCTTCGGCCACTTGAGGC
Phenotype
MIM: 605663
Polymorphism
G/T, Transversion 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 1496 Silent Mutation NP_055248.1
XM_011530149.2 1496 Missense Mutation XP_011528451.1
XM_011530150.1 1496 Missense Mutation XP_011528452.1
XM_011530151.2 1496 Missense Mutation XP_011528453.1
XM_011530152.2 1496 Missense Mutation XP_011528454.1
XM_011530154.2 1496 Missense Mutation XP_011528456.1
XM_011530155.2 1496 Missense Mutation XP_011528457.1
XM_017028774.1 1496 Missense Mutation XP_016884263.1

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