Product Details

SNP ID

rs79542980

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:236689813 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAGTGTTGGTGTCTAGAAGTAAA[C/T]ATCTCCTGGAACCAAGGAACACATA

Phenotype

MIM: 102573

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTN2 PubMed Links

Gene Details

Gene

ACTN2

Gene Name

actinin alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001103.3		Intron			NP_001094.1
NM_001278343.1		Intron			NP_001265272.1
NM_001278344.1		Intron			NP_001265273.1

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