Product Details

SNP ID

rs2070278

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.14:68875195 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

ATCCACACATGTACATACCGCATAC[A/G]CAACATGTATTTTTAAAATTCTCTC

Phenotype

MIM: 102575

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ACTN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs41285480] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ACTN1

Gene Name

actinin alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102.3		Intron			NP_001093.1
NM_001130004.1		Intron			NP_001123476.1
NM_001130005.1		Intron			NP_001123477.1
XM_011537265.2		Intron			XP_011535567.1
XM_011537266.2		Intron			XP_011535568.1
XM_011537267.2		Intron			XP_011535569.1
XM_011537268.2		Intron			XP_011535570.1
XM_017021720.1		Intron			XP_016877209.1
XM_017021721.1		Intron			XP_016877210.1
XM_017021722.1		Intron			XP_016877211.1
XM_017021723.1		Intron			XP_016877212.1
XM_017021725.1		Intron			XP_016877214.1
XM_017021726.1		Intron			XP_016877215.1
XM_017021727.1		Intron			XP_016877216.1
XM_017021728.1		Intron			XP_016877217.1

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