Product Details

SNP ID

rs146589453

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:42473108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAAATGCTAAGACAAGACTATCCA[G/T]GTAACATCAGTAATTCTCTTATGCC

Phenotype

MIM: 609314

Polymorphism

G/T, Transversion 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		Intron			NP_001273435.1
NM_080860.3		Intron			NP_543136.1
XM_005261208.2		Intron			XP_005261265.1
XM_011529786.1		Intron			XP_011528088.1

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