Product Details

SNP ID

rs147385961

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23059599 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGTCTGCAGGGCCTTGCGGCCCT[C/T]GGGGGCCTCTGCCAGCATGGTAAGG

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	1403	Missense Mutation	AAG,GAG	K304E	NP_055248.1
XM_011530149.2	1403	Missense Mutation	AAG,GAG	K354E	XP_011528451.1
XM_011530150.1	1403	Missense Mutation	CAA,CGA	Q348R	XP_011528452.1
XM_011530151.2	1403	Missense Mutation	CAA,CGA	Q348R	XP_011528453.1
XM_011530152.2	1403	Missense Mutation	CAA,CGA	Q348R	XP_011528454.1
XM_011530154.2	1403	Missense Mutation	CAA,CGA	Q280R	XP_011528456.1
XM_011530155.2	1403	Missense Mutation	CAA,CGA	Q216R	XP_011528457.1
XM_017028774.1	1403	Missense Mutation	CAA,CGA	Q348R	XP_016884263.1

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