Product Details

SNP ID

rs139557078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23059600 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTCTGCAGGGCCTTGCGGCCCTC[A/G]GGGGCCTCTGCCAGCATGGTAAGGG

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	1402	Silent Mutation	CCC,CCT	P303P	NP_055248.1
XM_011530149.2	1402	Silent Mutation	CCC,CCT	P353P	XP_011528451.1
XM_011530150.1	1402	Nonsense Mutation	CGA,TGA	R348*	XP_011528452.1
XM_011530151.2	1402	Nonsense Mutation	CGA,TGA	R348*	XP_011528453.1
XM_011530152.2	1402	Nonsense Mutation	CGA,TGA	R348*	XP_011528454.1
XM_011530154.2	1402	Nonsense Mutation	CGA,TGA	R280*	XP_011528456.1
XM_011530155.2	1402	Nonsense Mutation	CGA,TGA	R216*	XP_011528457.1
XM_017028774.1	1402	Nonsense Mutation	CGA,TGA	R348*	XP_016884263.1

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