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Select item 289375691.

rs28937569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76304100 (GRCh38)
7:75933417 (GRCh37)
Canonical SPDI:: NC_000007.14:76304099:C:T
Gene:: HSPB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by cluster
HGVS:: NC_000007.14:g.76304100C>T, NC_000007.13:g.75933417C>T, NG_008995.1:g.6543C>T, NM_001540.5:c.545C>T, NM_001540.4:c.545C>T, NM_001540.3:c.545C>T, NP_001531.1:p.Pro182Leu

Supplemental Content

28937569[uid] (1)
SNP
"TSC-CSHL"[Handle] (3486152)
SNP
LPL lipoprotein lipase [Homo sapiens]
LPL lipoprotein lipase [Homo sapiens]
Gene ID:4023

Gene
human STS WI-2300, sequence tagged site
human STS WI-2300, sequence tagged site
gi|719352|gnl|dbSTS|7880|gb|G02394. 394

Nucleotide
human STS WI-1245, sequence tagged site
human STS WI-1245, sequence tagged site
gi|719338|gnl|dbSTS|7866|gb|G02380. 380

Nucleotide

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