Product Details

SNP ID

rs139649211

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:32274764 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCATCCGAAATGGCTCTGAGGTG[C/T]GGGACCCACTGGTTACCTACGAAGG

Phenotype

MIM: 153390

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LCK PubMed Links

Additional Information

For this assay, SNP(s) [rs145088108] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

LCK

Gene Name

LCK proto-oncogene, Src family tyrosine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042771.2	252	Missense Mutation	CGG,TGG	R45W	NP_001036236.1
NM_005356.4	252	Missense Mutation	CGG,TGG	R45W	NP_005347.3
XM_011541453.2	252	Missense Mutation	CGG,TGG	R45W	XP_011539755.1
XM_011541454.2	252	Missense Mutation	CGG,TGG	R45W	XP_011539756.1
XM_011541455.2	252	Missense Mutation	CGG,TGG	R45W	XP_011539757.1

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