Product Details

SNP ID
rs116775276
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:69957372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGGTTGAGCAGAAGGGCTTGAA[C/T]AGGCACAGCTCTCTGAGGGTAGGGC
Phenotype
MIM: 115460
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CSN2 PubMed Links

Gene Details

Gene
CSN2
Gene Name
casein beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302770.1 593 Missense Mutation ATT,GTT I192V NP_001289699.1
NM_001891.3 593 Missense Mutation ATT,GTT I193V NP_001882.1
XM_017007760.1 593 Missense Mutation ATT,GTT I193V XP_016863249.1

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