Product Details

SNP ID

rs143565570

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179593852 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAAGAAGCCTTAGGGCATCTTCT[C/T]TTTCCTGGACAACTTTATCTAATGC

Phenotype

MIM: 604958 MIM: 611852

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTL6A PubMed Links

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	322	Missense Mutation	AAA,AGA	K149R	NP_065142.2
NM_177988.1	322	Missense Mutation	AAA,AGA	K39R	NP_817125.1

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