Product Details

SNP ID
rs200552934
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:69957325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCTGAGTCACAGGGTAGATCTG[G/T]TGGGTGGGGTTAAGTAGAAGTTCTT
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_001302770.1 640 Missense Mutation CAA,CAC Q207H NP_001289699.1
NM_001891.3 640 Missense Mutation CAA,CAC Q208H NP_001882.1
XM_017007760.1 640 Missense Mutation CAA,CAC Q208H XP_016863249.1

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