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Select item 43481591.

rs4348159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:69107234 (GRCh38)
4:69972952 (GRCh37)
Canonical SPDI:: NC_000004.12:69107233:C:A,NC_000004.12:69107233:C:T
Gene:: UGT2B7 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Clinical significance:: drug-response,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.130366/7373 (ALFA)
T=0.022472/12 (MGP)
T=0.050308/147 (KOREAN)
T=0.05786/106 (Korea1K)
T=0.077683/1302 (TOMMO)
T=0.101202/101 (GoNL)
T=0.12028/446 (TWINSUK)
T=0.125/27 (Qatari)
T=0.127919/493 (ALSPAC)
T=0.144444/78 (PharmGKB)
T=0.146667/88 (NorthernSweden)
T=0.154018/690 (Estonian)
T=0.163232/2123 (GoESP)
T=0.178482/894 (1000Genomes)
T=0.186985/49493 (TOPMED)
C=0.419192/83 (SGDP_PRJ)
HGVS:: NC_000004.12:g.69107234C>A, NC_000004.12:g.69107234C>T, NC_000004.11:g.69972952C>A, NC_000004.11:g.69972952C>T, NM_001074.4:c.1062C>A, NM_001074.4:c.1062C>T, NM_001074.3:c.1062C>A, NM_001074.3:c.1062C>T, NM_001074.2:c.1062C>A, NM_001074.2:c.1062C>T, NM_001330719.2:c.1062C>A, NM_001330719.2:c.1062C>T, NM_001330719.1:c.1062C>A, NM_001330719.1:c.1062C>T, NM_001349568.2:c.315C>A, NM_001349568.2:c.315C>T, NM_001349568.1:c.315C>A, NM_001349568.1:c.315C>T, NP_001065.2:p.Tyr354Ter, NP_001317648.1:p.Tyr354Ter, NP_001336497.1:p.Tyr105Ter

Supplemental Content

4348159[uid] (1)
SNP
6600892[uid] (1)
SNP
EST04608 Fetal brain, Stratagene (cat#936206) Homo sapiens cDNA clone HFBDX53, m...
EST04608 Fetal brain, Stratagene (cat#936206) Homo sapiens cDNA clone HFBDX53, mRNA sequence
gi|317868|gnl|dbEST|25773|gb|T06719

Nucleotide
PREDICTED: Latimeria chalumnae forkhead box A1 (FOXA1), mRNA
PREDICTED: Latimeria chalumnae forkhead box A1 (FOXA1), mRNA
gi|2721732367|ref|XM_005989160.3|

Nucleotide
GR__Ea12L15.f GR__Ea Gossypium raimondii cDNA clone GR__Ea12L15 5', mRNA sequenc...
GR__Ea12L15.f GR__Ea Gossypium raimondii cDNA clone GR__Ea12L15 5', mRNA sequence
gi|48790647|gnl|dbEST|23716558|gb|C 61.1|

Nucleotide

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dbSNP