Product Details

SNP ID

rs149425283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:36151735 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCCGGGCGGTGGAGCTGAAGGA[C/G]CGGATCAGCGCCTGGGACACCTGCG

Phenotype

MIM: 114170 MIM: 123995

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CAPNS1 PubMed Links

Gene Details

Gene

CAPNS1

Gene Name

calpain small subunit 1

There are no transcripts associated with this gene.

Gene

COX7A1

Gene Name

cytochrome c oxidase subunit 7A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001864.3	498	Silent Mutation	CGC,CGG	R12R	NP_001855.1

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