Product Details

SNP ID
rs147551003
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73926914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTGTGTGAATCGTGGGTGGGATG[G/T]CCGCGGGCCGCCTCTTTCTAAGTCG
Phenotype
MIM: 102545 MIM: 601465
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
ACTG2 PubMed Links

Gene Details

Gene
ACTG2
Gene Name
actin, gamma 2, smooth muscle, enteric
There are no transcripts associated with this gene.

Gene
DGUOK
Gene Name
deoxyguanosine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318859.1 89 Missense Mutation GCC,TCC A2S NP_001305788.1
NM_001318860.1 89 UTR 5 NP_001305789.1
NM_001318861.1 89 UTR 5 NP_001305790.1
NM_001318862.1 89 UTR 5 NP_001305791.1
NM_001318863.1 89 UTR 5 NP_001305792.1
NM_080916.2 89 Missense Mutation GCC,TCC A2S NP_550438.1
NM_080918.2 89 Missense Mutation GCC,TCC A2S NP_550440.1
XM_011532647.2 89 Missense Mutation GCC,TCC A2S XP_011530949.1

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