Product Details

SNP ID

rs148900779

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:66305091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAAGATCAAAAGCAGCCTACAC[A/G]GAATGGTCAGGAAGAGTTGTTCCTA

Phenotype

MIM: 614539

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

HELB PubMed Links

Additional Information

For this assay, SNP(s) [rs35605829] 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

HELB

Gene Name

DNA helicase B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033647.4	607	Missense Mutation	CAG,CGG	Q183R	NP_387467.2
XM_005269234.2	607	Missense Mutation	CAG,CGG	Q183R	XP_005269291.1
XM_017020230.1	607	Missense Mutation	CAG,CGG	Q183R	XP_016875719.1

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