Product Details

SNP ID

rs143012009

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:3022071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAAGATGGCAGAAGTCATGTTC[A/G]AGAACTTCGGCGTGCCCGCTTTCTA

Phenotype

MIM: 608535

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTRT2 PubMed Links

Gene Details

Gene

ACTRT2

Gene Name

actin related protein T2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080431.4	590	Missense Mutation	AAG,GAG	K129E	NP_536356.3

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