Product Details

SNP ID

rs1052879

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.3:179588962 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

TCTTTCTCTCTAAATTTTCCTTCCG[G/T]GCTTTGATGCGGGCTCGTTTCTCAC

Phenotype

MIM: 604958 MIM: 611852

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ACTL6A PubMed Links

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	539	Intron			NP_004292.1
NM_177989.3	539	Intron			NP_817126.1
NM_178042.3	539	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	539	Silent Mutation	GCA,GCC	A221A	NP_065142.2
NM_177988.1	539	Silent Mutation	GCA,GCC	A111A	NP_817125.1

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