Product Details

SNP ID

rs138344347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:57482019 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGGTGAGGAGGATGCGGCTGCC[C/T]TGACCATCTCCTGCTCAAAGTCCAG

Phenotype

MIM: 614835

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTBL2 PubMed Links

Gene Details

Gene

ACTBL2

Gene Name

actin, beta like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017992.3	791	Missense Mutation	AAG,AGG	K230R	NP_001017992.1

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