Product Details

SNP ID

rs147448301

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6498771 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGGAGGAGCTGGCCACCTGGCTG[C/T]GACCATTGACACTGCCTGAGCTACA

Phenotype

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DNHD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs11040899] are located under a primer 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

DNHD1

Gene Name

dynein heavy chain domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144666.2	1120	Nonsense Mutation	CGA,TGA	R186*	NP_653267.2
NM_173589.3	1120	Nonsense Mutation	CGA,TGA	R186*	NP_775860.3

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