Product Details

SNP ID

rs6784464

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179588878 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATTTAATAGTTCAGACATCTTAGAC[A/G]AGACTTGACTTTTGGGCTTCAGCAA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004301.4	623	Intron			NP_004292.1
NM_177989.3	623	Intron			NP_817126.1
NM_178042.3	623	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	623	Silent Mutation	CTC,CTT	L249L	NP_065142.2
NM_177988.1	623	Silent Mutation	CTC,CTT	L139L	NP_817125.1

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