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Select item 5033511.

rs503351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145094980 (GRCh38)
1:143914163 (GRCh37)
Canonical SPDI:: NC_000001.11:145094979:A:G
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0369/165 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.1558/454 (KOREAN)
HGVS:: NC_000001.11:g.145094980A>G, NW_003871055.3:g.1910393A>G, NG_092033.1:g.27A>G, NC_000001.10:g.143914163T>C, XM_011509962.4:c.103A>G, XM_011509962.3:c.103A>G, XM_011509962.2:c.103A>G, XM_011509962.1:c.103A>G, NM_001345942.2:c.103A>G, NM_001345942.1:c.103A>G, XM_047429806.1:c.-1868A>G, XP_011508264.1:p.Arg35Gly, NP_001332871.1:p.Arg35Gly

Supplemental Content

503351[uid] (1)
SNP
Homo sapiens chromosome 11 genomic contig, reference assembly
Homo sapiens chromosome 11 genomic contig, reference assembly
gi|51468697|ref|NT_033899.7|Hs11_34

Nucleotide
Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), mRNA
Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), mRNA
gi|27502389|ref|NM_001562.2|

Nucleotide
300[uid] (1)
SNP
1137070[uid] (1)
SNP

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