Product Details

SNP ID

rs138785691

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179592676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGGTCCACATAAGGCAAGGCAAA[A/G]AATCGTTTCCTATTGTATCTTTTAT

Phenotype

MIM: 604958 MIM: 611852

Polymorphism

A/G, 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	473	Silent Mutation	TTC,TTT	F199F	NP_065142.2
NM_177988.1	473	Silent Mutation	TTC,TTT	F89F	NP_817125.1

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