Product Details

SNP ID

rs117096937

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67519883 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTGAGGCGCTCCCCCAGCAGGG[C/T]CTTGAGGGCCGCCCGGAGCTCGCCC

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	653	Missense Mutation	ACC,GCC	T189A	NP_001305425.1
NM_016366.2	653	Missense Mutation	ACC,GCC	T183A	NP_057450.2

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