Product Details

SNP ID
rs17884502
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:36141335 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATAGGATTAACCTGGAGGCTAACC[C/T]GGGTACATGAATTAGGCCGGGGAGG
Phenotype
MIM: 114170 MIM: 123995
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CAPNS1 PubMed Links

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 Intron NP_001003962.1
NM_001302632.1 Intron NP_001289561.1
NM_001302633.1 Intron NP_001289562.1
NM_001749.3 Intron NP_001740.1
XM_005259295.1 Intron XP_005259352.1
XM_005259296.1 Intron XP_005259353.1
XM_011527359.1 Intron XP_011525661.1
Gene
COX7A1
Gene Name
cytochrome c oxidase subunit 7A1
There are no transcripts associated with this gene.

View Full Product Details