Product Details

SNP ID

rs151158140

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:42476042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGGCCTCCTCCCCGGGTTCTC[C/T]TGCACCTGAGATAAAACACAAGTCA

Phenotype

MIM: 609314

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RSPH1 PubMed Links

Additional Information

For this assay, SNP(s) [rs117385282] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	901	Missense Mutation	AGA,GGA	R207G	NP_001273435.1
NM_080860.3	901	Missense Mutation	AGA,GGA	R245G	NP_543136.1
XM_005261208.2	901	Missense Mutation	AGA,GGA	R176G	XP_005261265.1
XM_011529786.1	901	Missense Mutation	AGA,GGA	R221G	XP_011528088.1

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