Product Details

SNP ID
rs202068314
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65214417 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTGGGGGCTGCCGTGTTTGGCA[C/G]CTTGGCAGACAGGTGAGCCCGTGGG
Phenotype
MIM: 114220 MIM: 611696
Polymorphism
C/G, 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_001004326.4 506 Missense Mutation ACC,AGC T158S NP_001004326.4
XM_011545043.2 506 Missense Mutation ACC,AGC T158S XP_011543345.1
XM_017017774.1 506 Missense Mutation ACC,AGC T158S XP_016873263.1
XM_017017775.1 506 Intron XP_016873264.1
XM_017017776.1 506 Intron XP_016873265.1

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