Product Details

SNP ID
rs201329100
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:42475907 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCGCAGGGACCTCACCCTCATCCA[C/T]GTCATAGCGGAACTCCTCCTGGTCA
Phenotype
MIM: 609314
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RSPH1 PubMed Links

Gene Details

Gene
RSPH1
Gene Name
radial spoke head 1 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286506.1 1036 Missense Mutation ATG,GTG M252V NP_001273435.1
NM_080860.3 1036 Missense Mutation ATG,GTG M290V NP_543136.1
XM_005261208.2 1036 Missense Mutation ATG,GTG M221V XP_005261265.1
XM_011529786.1 1036 Missense Mutation ATG,GTG M266V XP_011528088.1

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