Product Details

SNP ID
rs189474171
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:37088438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATGTCTGATTCCTTCATTAATGT[C/T]CAGTAAGTAAATGTGCACACCCAGT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GPATCH11 PubMed Links

Gene Details

Gene
GPATCH11
Gene Name
G-patch domain containing 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278505.1 190 Missense Mutation TCC,TTC S2F NP_001265434.1
NM_001322249.1 190 Silent Mutation GTC,GTT V41V NP_001309178.1
NM_174931.3 190 Silent Mutation GTC,GTT V41V NP_777591.3
XM_017003748.1 190 Intron XP_016859237.1
Gene
HEATR5B
Gene Name
HEAT repeat containing 5B
There are no transcripts associated with this gene.

View Full Product Details