Product Details

SNP ID

rs1052863

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179588875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATTTAATAGTTCAGACATCTTA[A/G]ACAAGACTTGACTTTTGGGCTTCAG

Phenotype

MIM: 604958 MIM: 611852

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ACTL6A PubMed Links

Additional Information

For this assay, SNP(s) [rs3774258] 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004301.4	626	Intron			NP_004292.1
NM_177989.3	626	Intron			NP_817126.1
NM_178042.3	626	Intron			NP_829888.1

Gene

MRPL47

Gene Name

mitochondrial ribosomal protein L47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020409.2	626	Silent Mutation	GTC,GTT	V250V	NP_065142.2
NM_177988.1	626	Silent Mutation	GTC,GTT	V140V	NP_817125.1

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