Product Details

SNP ID

rs140064341

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:157181092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTGTGTTAACCAAAGCCAGCCTG[G/T]CATACTTTGAAGATCGTCATGGGGT

Phenotype

MIM: 186973

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ITK PubMed Links

Gene Details

Gene

ITK

Gene Name

IL2 inducible T-cell kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005546.3	197	Missense Mutation	GCA,TCA	A39S	NP_005537.3
XM_017009443.1	197	Intron			XP_016864932.1

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