Product Details

SNP ID

rs149660514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:57481692 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGATGGAGCCCCCAATCCAAACA[G/T]AATACTTCCGCTCTGGGGGAGCTAT

Phenotype

MIM: 614835

Polymorphism

G/T, Transversion 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	1118	Missense Mutation	TAT,TCT	Y339S	NP_001017992.1

View Full Product Details