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Select item 339790611.

rs33979061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:233772033 (GRCh38)
2:234680679 (GRCh37)
Canonical SPDI:: NC_000002.12:233772032:A:C,NC_000002.12:233772032:A:T
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.138476/1973 (ALFA)
C=0.01536/257 (TOMMO)
C=0.038225/112 (KOREAN)
C=0.061321/13 (Vietnamese)
C=0.097222/14 (PharmGKB)
C=0.164428/823 (1000Genomes)
C=0.201167/53247 (TOPMED)
C=0.217593/47 (Qatari)
C=0.278125/1246 (Estonian)
C=0.285/171 (NorthernSweden)
C=0.290581/290 (GoNL)
C=0.295307/1095 (TWINSUK)
C=0.3/12 (GENOME_DK)
C=0.303581/1170 (ALSPAC)
A=0.416667/10 (Siberian)
A=0.423611/61 (SGDP_PRJ)
HGVS:: NC_000002.12:g.233772033A>C, NC_000002.12:g.233772033A>T, NC_000002.11:g.234680679A>C, NC_000002.11:g.234680679A>T, NG_002601.2:g.187290A>C, NG_002601.2:g.187290A>T, NG_051337.1:g.1372A>C, NG_051337.1:g.1372A>T, NG_033238.1:g.16761A>C, NG_033238.1:g.16761A>T

Supplemental Content

33979061[uid] (1)
SNP
17862881[uid] (1)
SNP
72551356[uid] (1)
SNP
Homo sapiens nucleoporin 58 (NUP58), transcript variant 1, mRNA
Homo sapiens nucleoporin 58 (NUP58), transcript variant 1, mRNA
gi|1519312193|ref|NM_014089.4|

Nucleotide
cytoplasmic pump protein of the hefABC efflux system HefC [Helicobacter pylori L...
cytoplasmic pump protein of the hefABC efflux system HefC [Helicobacter pylori Lithuania75]
gi|317012422|gnl|BerglabWUSTL|HPLT_ |gb|ADU83030.1|

Protein

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