Product Details

SNP ID

rs2242241

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:21909370 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TACTCAGTTCCTGGCTGCCAGCCAG[C/A]AGCAGAGAAATCCTGCCCGGCTGGC

Phenotype

MIM: 604997

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

DOK2 PubMed Links

Gene Details

Gene

DOK2

Gene Name

docking protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317800.1	1199	Missense Mutation	GCT,TCT	A240S	NP_001304729.1
NM_003974.3	1199	Missense Mutation	GCT,TCT	A394S	NP_003965.2
NM_201349.2	1199	Missense Mutation	GCT,TCT	A240S	NP_958728.1
XM_005273680.4	1199	Missense Mutation	GCT,TCT	A300S	XP_005273737.1

View Full Product Details