Product Details

SNP ID

rs2276118

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.11:67521123 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTCCCGGCAGCCAATGTAGCCGTCC[T/C]GGTCTCGGTCAAACTCCTGGAAGGC

Phenotype

MIM: 607314

Polymorphism

T/C, 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	387	Missense Mutation	CAG,CGG	Q100R	NP_001305425.1
NM_016366.2	387	Missense Mutation	CAG,CGG	Q94R	NP_057450.2

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