Product Details

SNP ID

rs113641516

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30353784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGCCTGGCGCTGGCCAGGTGGC[C/T]GCTCCCGGATCTTCACCTGTAATGG

Phenotype

MIM: 604470 MIM: 613620

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CD2BP2 PubMed Links

Gene Details

Gene

CD2BP2

Gene Name

CD2 cytoplasmic tail binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243646.1	568	Missense Mutation	CAG,CGG	Q131R	NP_001230575.1
NM_006110.2	568	Missense Mutation	CAG,CGG	Q131R	NP_006101.1

Gene

TBC1D10B

Gene Name

TBC1 domain family member 10B

There are no transcripts associated with this gene.

View Full Product Details