Product Details

SNP ID

rs12074652

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:3021754 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACAATGGCTCGGGGTTCTGCAAAG[C/T]GGGCCTGTCTGGGGAGTTTGGACCC

Phenotype

MIM: 608535

Polymorphism

C/T, 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	273	Missense Mutation	GCG,GTG	A23V	NP_536356.3

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