Product Details

SNP ID

rs189197365

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:3021697 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAGGCTGCGGGCATGTTTAATC[C/T]GCACGCTTTAGACTCCCCGGCTGTG

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	216	Missense Mutation	CCG,CTG	P4L	NP_536356.3

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