Product Details

SNP ID

rs199916116

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:36142332 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCGCAGTACAACCCGGAGCCCC[C/T]GGTAAGCCCCCTCTGCAACCAGACC

Phenotype

MIM: 114170 MIM: 123995

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CAPNS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2075475] 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

CAPNS1

Gene Name

calpain small subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003962.2	393	Missense Mutation	CCG,CTG	P81L	NP_001003962.1
NM_001302632.1	393	Missense Mutation	CCG,CTG	P81L	NP_001289561.1
NM_001302633.1	393	UTR 5			NP_001289562.1
NM_001749.3	393	Missense Mutation	CCG,CTG	P81L	NP_001740.1
XM_005259295.1	393	Missense Mutation	CCG,CTG	P81L	XP_005259352.1
XM_005259296.1	393	Missense Mutation	CCG,CTG	P81L	XP_005259353.1
XM_011527359.1	393	Missense Mutation	CCG,CTG	P13L	XP_011525661.1

Gene

COX7A1

Gene Name

cytochrome c oxidase subunit 7A1

There are no transcripts associated with this gene.

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