Product Details

SNP ID
rs35881601
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23059518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCGGGCTGCCCGCTGTAAGGCTT[C/T]GGCCACTTGAGGCTTTTCGTAAGTC
Phenotype
MIM: 605663
Polymorphism
C/T, 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 1484 Missense Mutation AAA,GAA K331E NP_055248.1
XM_011530149.2 1484 Missense Mutation AAA,GAA K381E XP_011528451.1
XM_011530150.1 1484 Missense Mutation CAA,CGA Q375R XP_011528452.1
XM_011530151.2 1484 Missense Mutation CAA,CGA Q375R XP_011528453.1
XM_011530152.2 1484 Missense Mutation CAA,CGA Q375R XP_011528454.1
XM_011530154.2 1484 Missense Mutation CAA,CGA Q307R XP_011528456.1
XM_011530155.2 1484 Missense Mutation CAA,CGA Q243R XP_011528457.1
XM_017028774.1 1484 Missense Mutation CAA,CGA Q375R XP_016884263.1

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