Have questions? Visit https://www.reddit.com/r/SNPedia

rs3824886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs3824886(G;T)
Make rs3824886(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position20383067
GeneHTATIP2
is asnp
is mentioned by
dbSNPrs3824886
ebirs3824886
HLIrs3824886
Exacrs3824886
Varsomers3824886
Maprs3824886
PheGenIrs3824886
hapmaprs3824886
1000 genomesrs3824886
hgdprs3824886
ensemblrs3824886
gopubmedrs3824886
geneviewrs3824886
scholarrs3824886
googlers3824886
pharmgkbrs3824886
gwascentralrs3824886
openSNPrs3824886
23andMers3824886
23andMe allrs3824886
SNP Nexus

SNPshotrs3824886
SNPdbers3824886
MSV3drs3824886
GWAS Ctlgrs3824886
GMAF0.2888
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene HTATIP2
allele G
frequency 0.958
sift TOLERATED
HuRef 1103649625796
Disease Association Defects in HTATIP2 are a cause of aggressive metastatic proliferation in variant small cell lung carcinomas (vSCLC). Furthermore, they are associated with 33% of hepatocellular carcinomas (HCC). Lack of HTATIP2 renders tumor cells resistant to apoptotic signals.



[PMID 16251468OA-icon.png] Survey of allelic expression using EST mining.


GET Evidence
HTATIP2-S231R
aa_change Ser231Arg
aa_change_short S231R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.843186
summary