Product Details

SNP ID
rs115891956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65217540 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCATTCTCTGGACTCAGGCTGG[G/T]CTGCAAGGGCCCCCTGGTCTGGTCC
Phenotype
MIM: 114220 MIM: 611696
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CAPN1 PubMed Links

Gene Details

Gene
CAPN1
Gene Name
calpain 1
There are no transcripts associated with this gene.

Gene
SLC22A20
Gene Name
solute carrier family 22 member 20
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004326.4 524 Missense Mutation GGC,GTC G164V NP_001004326.4
XM_011545043.2 524 Missense Mutation GGC,GTC G164V XP_011543345.1
XM_017017774.1 524 Missense Mutation GGC,GTC G164V XP_016873263.1
XM_017017775.1 524 Intron XP_016873264.1
XM_017017776.1 524 Intron XP_016873265.1

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