Product Details

SNP ID

rs11549990

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179570192 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTACATAGATACTAATGCTCTGCG[A/T]GTTCCGAGGGAGAATATGGAGGCCA

Phenotype

MIM: 604958

Polymorphism

A/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	489	Silent Mutation	CGA,CGT	R76R	NP_004292.1
NM_177989.3	489	Silent Mutation	CGA,CGT	R34R	NP_817126.1
NM_178042.3	489	Silent Mutation	CGA,CGT	R34R	NP_829888.1

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