Product Details

SNP ID

rs148034116

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30358799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGCGCAGCAGGACCAGGGCCACC[C/T]GGAAGATGATCTTAACGCCTGCAGG

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

There are no transcripts associated with this gene.

Gene

TBC1D10B

Gene Name

TBC1 domain family member 10B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015527.3	1546	Missense Mutation	CAG,CGG	Q554R	NP_056342.3
XM_011545789.1	1546	Missense Mutation	CAG,CGG	Q449R	XP_011544091.1
XM_011545790.2	1546	Missense Mutation	AGG,GGG	R491G	XP_011544092.1

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