Product Details

SNP ID

rs78410864

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179593903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCATGGAATCTACTACCTGAAAA[A/G]AGAATAGAAAGATACAATTTCAACA

Phenotype

MIM: 604958 MIM: 611852

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ACTL6A PubMed Links

Additional Information

For this assay, SNP(s) [rs75400090] 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

ACTL6A

Gene Name

actin like 6A

There are no transcripts associated with this gene.

Gene

MRPL47

Gene Name

mitochondrial ribosomal protein L47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020409.2		Intron			NP_065142.2
NM_177988.1		Intron			NP_817125.1

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