Product Details

SNP ID

rs117717616

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:42472511 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCAGAAAGAAAGGATAATAAAGA[C/T]GTTTATTTGCATTTGTCAATCAACT

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	1405	UTR 3			NP_001273435.1
NM_080860.3	1405	UTR 3			NP_543136.1
XM_005261208.2	1405	UTR 3			XP_005261265.1
XM_011529786.1	1405	UTR 3			XP_011528088.1

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