Product Details

SNP ID
rs139490673
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:21909559 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGGCAGGGTCTCCTCAATGCTGT[C/G]GTACAGAGGGTCGGCCAGGAGCTGA
Phenotype
MIM: 604997
Polymorphism
C/G, 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 1010 Missense Mutation CAC,GAC H177D NP_001304729.1
NM_003974.3 1010 Missense Mutation CAC,GAC H331D NP_003965.2
NM_201349.2 1010 Missense Mutation CAC,GAC H177D NP_958728.1
XM_005273680.4 1010 Missense Mutation CAC,GAC H237D XP_005273737.1

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