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Select item 348510081.

rs34851008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:69108300 (GRCh38)
4:69974018 (GRCh37)
Canonical SPDI:: NC_000004.12:69108299:A:C
Gene:: UGT2B7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000101/4 (ALFA)
C=0.000041/5 (ExAC)
C=0.000044/11 (GnomAD_exomes)
C=0.000193/27 (GnomAD)
C=0.000234/62 (TOPMED)
C=0.000308/4 (GoESP)
HGVS:: NC_000004.12:g.69108300A>C, NC_000004.11:g.69974018A>C, NM_001074.4:c.1288A>C, NM_001074.3:c.1288A>C, NM_001074.2:c.1288A>C, NM_001349568.2:c.541A>C, NM_001349568.1:c.541A>C, NP_001065.2:p.Lys430Gln, NP_001336497.1:p.Lys181Gln

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