SNP Report
| Name | rs347311 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:162334117 - 162334117(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.151757 | ||
| Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000516453); intron_variant(ENST00000361897, ENST00000430120, ENST00000530878); NMD_transcript_variant(ENST00000430120) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000361897, ENST00000430120, ENST00000530878) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000361897, ENST00000430120, ENST00000530878) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Enhancers;Strong transcription | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||


