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rs5273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:186674636 (GRCh38)
1:186643768 (GRCh37)
Canonical SPDI:: NC_000001.11:186674635:A:C,NC_000001.11:186674635:A:G,NC_000001.11:186674635:A:T
Gene:: PTGS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00286/761 (ALFA)
G=0./0 (PRJEB36033)
G=0./0 (TWINSUK)
G=0.000013/1 (TOMMO)
G=0.000259/1 (ALSPAC)
G=0.001873/1 (MGP)
G=0.00463/1 (Qatari)
G=0.01404/2096 (GnomAD_genomes)
G=0.014715/3895 (TOPMED)
G=0.015244/5 (HapMap)
G=0.015454/201 (GoESP)
G=0.018114/116 (1000Genomes_30X)
G=0.01877/94 (1000Genomes)
G=0.021359/1681 (PAGE_STUDY)
A=0.4/4 (SGDP_PRJ)
HGVS:: NC_000001.11:g.186674636A>C, NC_000001.11:g.186674636A>G, NC_000001.11:g.186674636A>T, NC_000001.10:g.186643768A>C, NC_000001.10:g.186643768A>G, NC_000001.10:g.186643768A>T, NG_028206.2:g.10792T>G, NG_028206.2:g.10792T>C, NG_028206.2:g.10792T>A, NM_000963.4:c.1532T>G, NM_000963.4:c.1532T>C, NM_000963.4:c.1532T>A, NM_000963.3:c.1532T>G, NM_000963.3:c.1532T>C, NM_000963.3:c.1532T>A, NM_000963.2:c.1532T>G, NM_000963.2:c.1532T>C, NM_000963.2:c.1532T>A, NP_000954.1:p.Val511Gly, NP_000954.1:p.Val511Ala, NP_000954.1:p.Val511Asp

Supplemental Content

5273[uid] (1)
SNP
386014[uid] (1)
SNP
13306584[uid] (1)
SNP
Homo sapiens ribosomal protein S10 (RPS10), transcript variant 2, mRNA
Homo sapiens ribosomal protein S10 (RPS10), transcript variant 2, mRNA
gi|1390016880|ref|NM_001014.5|

Nucleotide
Synthetic construct Homo sapiens ribosomal protein S10, mRNA (cDNA clone MGC:888...
Synthetic construct Homo sapiens ribosomal protein S10, mRNA (cDNA clone MGC:88819 IMAGE:5517455), complete cds
gi|49256435|gb|BC073799.1|

Nucleotide

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dbSNP