Product Details

SNP ID
rs115681335
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15256296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTTTTATTCTCTGCCCCTTCTGC[C/T]CTGTCTCCTATAGAAATACAAGGAT
Phenotype
MIM: 606400 MIM: 605612
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CAPN7 PubMed Links

Gene Details

Gene
CAPN7
Gene Name
calpain 7
There are no transcripts associated with this gene.

Gene
SH3BP5
Gene Name
SH3 domain binding protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018009.3 1079 Silent Mutation AGA,AGG R229R NP_001018009.2
NM_004844.4 1079 Silent Mutation AGA,AGG R386R NP_004835.2
XM_011534251.2 1079 Silent Mutation AGA,AGG R346R XP_011532553.1
XM_011534253.1 1079 Silent Mutation AGA,AGG R299R XP_011532555.1
XM_017007521.1 1079 Silent Mutation AGA,AGG R373R XP_016863010.1
XM_017007522.1 1079 Silent Mutation AGA,AGG R229R XP_016863011.1
XM_017007523.1 1079 Silent Mutation AGA,AGG R229R XP_016863012.1
XM_017007524.1 1079 Silent Mutation AGA,AGG R229R XP_016863013.1
XM_017007525.1 1079 Silent Mutation AGA,AGG R229R XP_016863014.1
Gene
SH3BP5-AS1
Gene Name
SH3BP5 antisense RNA 1
There are no transcripts associated with this gene.

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