Product Details

SNP ID

rs4802770

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38732762 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCAGCCCCCATCTCCCTGTGGCTCC[A/C]TCTGCTGTGTGGTGGCAGACAGGCC

Phenotype

MIM: 604638 MIM: 608839

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ACTN4 PubMed Links

Additional Information

For this assay, SNP(s) [rs138146294] are located under a probe and SNP(s) [rs141454785] are located under a primer 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

ACTN4

Gene Name

actinin alpha 4

There are no transcripts associated with this gene.

Gene

CAPN12

Gene Name

calpain 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144691.4		Intron			NP_653292.2
XM_017026355.1		Intron			XP_016881844.1
XM_017026356.1		Intron			XP_016881845.1
XM_017026357.1		Intron			XP_016881846.1
XM_017026358.1		Intron			XP_016881847.1
XM_017026359.1		Intron			XP_016881848.1
XM_017026360.1		Intron			XP_016881849.1
XM_017026361.1		Intron			XP_016881850.1
XM_017026362.1		Intron			XP_016881851.1
XM_017026363.1		Intron			XP_016881852.1
XM_017026364.1		Intron			XP_016881853.1
XM_017026365.1		Intron			XP_016881854.1

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