Product Details

SNP ID
rs138138352
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:69957342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGATCTGGTGGGTGGGGTTAAGTA[G/T]AAGTTCTTGGTTGAGCAGAAGGGCT
Phenotype
MIM: 115460
Polymorphism
G/T, Transversion 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_001302770.1 623 Missense Mutation ATA,CTA I202L NP_001289699.1
NM_001891.3 623 Missense Mutation ATA,CTA I203L NP_001882.1
XM_017007760.1 623 Missense Mutation ATA,CTA I203L XP_016863249.1

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