Product Details

SNP ID
rs140767804
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67521058 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGAGATCTCGATGAGCTCCATCT[C/T]GGTGGGCATGTAGCCCAGGGTCCGC
Phenotype
MIM: 607314
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CABP2 PubMed Links

Gene Details

Gene
CABP2
Gene Name
calcium binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318496.1 452 Missense Mutation AAG,GAG K122E NP_001305425.1
NM_016366.2 452 Missense Mutation AAG,GAG K116E NP_057450.2

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