Product Details

SNP ID
rs146895192
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65172630 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGAGGCTGGGAGGCAACCTGGGG[A/T]GTGGGGAAGGCTGGGGTTCCCACCC
Phenotype
MIM: 114220 MIM: 614030
Polymorphism
A/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
SPDYC
Gene Name
speedy/RINGO cell cycle regulator family member C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008778.1 935 Intron NP_001008778.1
XM_017017705.1 935 Missense Mutation AGT,TGT S162C XP_016873194.1
XM_017017706.1 935 Intron XP_016873195.1
XM_017017707.1 935 Missense Mutation AGT,TGT S162C XP_016873196.1
XM_017017708.1 935 Intron XP_016873197.1
XM_017017709.1 935 Intron XP_016873198.1
XM_017017710.1 935 Intron XP_016873199.1

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