Product Details

SNP ID

rs144176745

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30358146 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTGCTTCTGCCGCTCCTTCTCC[A/C]GCTCCTTCTCCTGTTTCTGCCGCTC

Phenotype

MIM: 604470 MIM: 613620

Polymorphism

A/C, Transversion 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	2110	Missense Mutation	CGG,CTG	R742L	NP_056342.3
XM_011545789.1	2110	Missense Mutation	CGG,CTG	R637L	XP_011544091.1
XM_011545790.2	2110	UTR 3			XP_011544092.1

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