Product Details

SNP ID
rs145725971
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:21909522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCCCTCGGGCTCATCGTATATG[C/T]GGTCAGGTCGAGGGGGCAGGGTCTC
Phenotype
MIM: 604997
Polymorphism
C/T, Transition 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 1047 Missense Mutation CAC,CGC H189R NP_001304729.1
NM_003974.3 1047 Missense Mutation CAC,CGC H343R NP_003965.2
NM_201349.2 1047 Missense Mutation CAC,CGC H189R NP_958728.1
XM_005273680.4 1047 Missense Mutation CAC,CGC H249R XP_005273737.1

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