Product Details

SNP ID
rs11542976
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73926996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCACTCGAGGGCGTTTCCTCCT[C/G]CAGAGGCCTGCACGCGGGGCGCGGG
Phenotype
MIM: 102545 MIM: 601465
Polymorphism
C/G, 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_001318859.1 171 Missense Mutation TCC,TGC S29C NP_001305788.1
NM_001318860.1 171 UTR 5 NP_001305789.1
NM_001318861.1 171 UTR 5 NP_001305790.1
NM_001318862.1 171 UTR 5 NP_001305791.1
NM_001318863.1 171 UTR 5 NP_001305792.1
NM_080916.2 171 Missense Mutation TCC,TGC S29C NP_550438.1
NM_080918.2 171 Missense Mutation TCC,TGC S29C NP_550440.1
XM_011532647.2 171 Missense Mutation TCC,TGC S29C XP_011530949.1

View Full Product Details