Product Details

SNP ID

rs3209255

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:36152403 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGGGGCCTCACCCGAAGGGCC[T/A]GCATTCTGCCTTGTCCTCTTCCGCC

Phenotype

MIM: 114170 MIM: 123995

Polymorphism

T/A, 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	467	Missense Mutation	CAG,CTG	Q2L	NP_001855.1

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