Product Details

SNP ID

rs3774258

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179588860 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGAAAAACAAAATGGTAAATTTAAT[A/G]GTTCAGACATCTTAGACAAGACTTG

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	641	Intron			NP_004292.1
NM_177989.3	641	Intron			NP_817126.1
NM_178042.3	641	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	641	UTR 3			NP_065142.2
NM_177988.1	641	UTR 3			NP_817125.1

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